Professor Hamish Scott
|Org Unit||School of Biological Sciences|
|Telephone||+61 8 8222 3651|
Institute of Medical & Veterinary Science
Professor Hamish Scott did his PhD (1992) and first post-doc at the Women’s and Children’s Hospital and the University of Adelaide. During these 7 years he led the discovery of genes for 3 rare human diseases. After 11 more years, with the persistence of Professor John Hopwood and others in academia and industry, this resulted in either FDA approved therapy (2003) or clinical trials of novel therapies for these diseases.
In 1995, Hamish moved to the University of Geneva Medical School in Switzerland. His focus was, and remains, the application of genetic and genomic technologies to understand diseases processes to improve diagnoses and treatment. He led international collaborations in identification of human genes causing Down syndrome and rare forms of genetic deafness and autoimmunity (e.g. arthritis and multiple sclerosis). This continues to have profound effects on our understanding of basic biology of Down syndrome, hearing and the immune system and lead to new therapeutic strategies in these and related diseases. This was also the start of his interest in cancer and leukemia as children with Down syndrome have a low incidence of solid tumours and a high incidence of leukemia. This is also when he started to work on familial predisposition to leukemia.
Hamish relocated to the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne in 2000 as the Inaugural Nossal Leadership Fellow. He was appointed as a National Health and Medical Research Council (NHMRC) senior research fellow in 2001. His laboratory identified 2 additional deafness genes and described the role of a gene in reprogramming the DNA of an “adult” cell from “normal” to become a gamete (sperm or oocyte). He also described a cause of familial predisposition to leukemia.
Since returning to Adelaide in January 2008 he has been Deputy and then Head of the Department of Molecular Pathology at SA Pathology, He is an inaugural member of the Centre for Cancer Biology an Affiliate Professor in both the Schools of Medicine and Molecular and Biomedical Science at the University of Adelaide and an Adjunct Professor in of the University of South Australia. He is an NHMRC principal research fellow and a Founding Fellow of the Faculty of Science (FFSc) of the Royal College of Pathologists of Australasia (RCPA). He recently led the identification of mutations in a gene in rare families and patients that predisposed them to acute myeloid leukemia (AML), infectious diseases and lymphoedema. He has helped develop and introduce new technologies and tests for improved treatment (personalized medicine), in particular CML, and is a Joint Director of the ACRF Cancer Genome Facility established at SA Pathology.
He has led recent international collaborations published in Nat Genet and Blood (x2) on identification of germline mutations in rare families and patients that predispose them to acute myeloid leukemia (AML), infectious diseases, lymphoedema (in GATA2 Embergers syndrome and familial MDS/AML) and diverse hematologic malignancies (in DDX41). This has lead international recognition of the fact that there can be a substantive, sometimes monogenic, predisoposition to haematological malignancies and response to treatments.
He is a Joint Director of the CCB ACRF Cancer Genome Facility established at SA Pathology, the Facilitator of the Genomics, Genetics and Drugable Targets pillar, of the South Australian Comprehensive Cancer Consortium, on the Executive Committee of the South Australian Cancer Research Biobank and the National Steering Committee of the newly NHMRC funded Australian Genomics Health Alliance. In these roles he has been central to introducing introduce new technologies for both somatic and germline genotyping (e.g. using next generation sequencing to SA Pathology at a panel, exome and whole genome level) for improved diagnoses and treatment (personalized medicine) for which his team won an SA Health Award for Excellence.
1. Genetics and pathologic mechanisms of haematological malignancy (HM = leukaemia and lymphoma) predisposition and progressionOur laboratory focuses on disease gene discovery and confirmation utilizing latest genomic technologies. We have accrued samples from over 90 families with predisposition to HM, which are invaluable resource for the identification of genetic and epigenetic changes leading to these and other cancers. Using a combination of strategies including state-of-the-art whole exome and genome next generation sequencing, we have found additional genes that segregate with diseased individuals in some of these families and/or are mutated in sporadic samples. We continue to hunt for additional genes/mutations in families and sporadic samples. Functional studies on potential and identified genes in vitro, ex vivo and in vivo in mice continue to expose mechanisms for predisposition and progression to HM.
2. Diagnostic implementation of NGS for personalised medicineNext generation sequencing has the power to dramatically increase diagnostic test efficiencies, including pricing, and help in personalised medicine for genetic diseases and cancer. We are implementing NGS sequencing tests including panel sequencing for cancers such as lung, melanoma and colorectal, and whole exome sequencing for genetic diseases such as inherited familial cancers.
3. Genetic autopsy of perinatal death: diagnosis and discovery by Whole Genome Sequencing The causes of perinatal death and genetic termination of pregnancy (GTOP) often cannot be established despite autopsy and extensive investigation, often with long term psychological consequences for families. Establishing a cause of perinatal death or congenital abnormalities relies on post-mortem examination, which includes analysis of tissue samples, x-rays, chromosome studies and DNA-based testing. Despite this, the cause is often not identified. The advent of whole genome sequencing (WGS) has provided a powerful new tool for genetic testing. We are implementing WGS analysis to diagnose "unsolved" perinatal death and GTOP cases, which, together with functional assays, will also provide insights into the genetic mechanisms that underlie them.
1. Tan DS, Gan PY, O'Sullivan KM, Hammett MV, Summers SA, Ooi JD, Lundgren BA, Boyd RL, Scott HS, Kitching AR, Chidgey AP, Holdsworth SR (2013) Thymic Deletion and Regulatory T Cells Prevent Antimyeloperoxidase GN. J Am Soc Nephrol 24:573-585
2. Molina L, Fasquelle L, Nouvian Rg, Salvetat N, Scott HS, Guipponi M, Molina F, Puel J-L, Delprat B (2013) Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. Human Molecular Genetics 22:1289-1299
3. Wang X, Laan M, Bichele R, Kisand K, Scott HS, Peterson P (2012) Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens. Frontiers in Immunology 3
4. Torpy DJ, Lundgren BA, Ho JT, Lewis JG, Scott HS, Mericq V (2012) CBG Santiago: A Novel CBG Mutation. J Clin Endocrinol Metab 97:E151-155
5. Sharma A, Tan HT, Cheetham G, Scott HS, Brown MP (2012) Association of Epidermal Growth Factor Receptor Mutations including Novel Mutations with Lack of Clinical Response to Gefitinib in Three Non-Small Cell Lung Cancer Patients. Journal of Thoracic Oncology 7:941-942
6. Rao N, Butcher CM, Lewis ID, Ross DM, Melo JV, Scott HS, Bardy PG, D'Andrea RJ (2012) Clonal and lineage analysis of somatic DNMT3A and JAK2 mutations in a chronic phase polycythemia vera patient. Br J Haematol 156:268-270
7. Parker WT, Ho M, Scott HS, Hughes TP, Branford S (2012) Poor response to second-line kinase inhibitors in CML patients with multiple low-level mutations, irrespective of their resistance profile. Blood 119:2234-2238
8. Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS (2012) Proteomic and metabolomic analyses of a mitochondrial complex I deficient mouse model generated by spontaneous B2 Short Interspersed Nuclear Element (SINE) insertion into the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. J Biol Chem 287:20652-20663
9. Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang M, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL (2012) Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 119:1283-1291
10. Gagliardi L, Ling KH, Kok CH, Carolan J, Brautigan PJ, Kenyon R, D'Andrea RJ, van der Hoek M, Hahn CN, Torpy DJ, Scott HS (2012) Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia. Endocrine-Related Cancer 19:L19-23
11. Drini M, Wong NC, Scott HS, Craig JM, Dobrovic A, Hewitt CA, Young J, Saffery R, Macrae FA (2011 ) Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in Hyperplastic Polyposis Syndrome. PLoS One 6:e16831
12. Zamudio NM, Scott HS, Wolski K, Lo CY, Law C, Leong D, Kinkel SA, Chong S, Jolley D, Smyth GK, de Kretser D, Whitelaw E, O'Bryan MK (2011) DNMT3L Is a Regulator of X Chromosome Compaction and Post-Meiotic Gene Transcription. PLoS One 6:e18276
13. Pomie C, Vicente R, Vuddamalay Y, Lundgren BA, van der Hoek M, Enault G, Kagan J, Fazilleau N, Scott HS, Romagnoli P, van Meerwijk JP (2011) Autoimmune regulator (AIRE)-deficient CD8+CD28low regulatory T lymphocytes fail to control experimental colitis. Proc Natl Acad Sci U S A 108:12437-12442
14. Parker WT, Lawrence RM, Ho M, Irwin DL, Scott HS, Hughes TP, Branford S (2011) Sensitive Detection of BCR-ABL1 Mutations in Patients With Chronic Myeloid Leukemia After Imatinib Resistance Is Predictive of Outcome During Subsequent Therapy. J Clin Oncol 29:4250-4259
15. Ling KH, Hewitt CA, Beissbarth T, Hyde L, Cheah PS, Smyth GK, Tan SS, Hahn CN, Thomas T, Thomas PQ, Scott HS (2011) Spatiotemporal Regulation of Multiple Overlapping Sense and Novel Natural Antisense Transcripts at the Nrgn and Camk2n1 Gene Loci during Mouse Cerebral Corticogenesis. Cereb Cortex 21:683-697
16. Ling KH, Brautigan PJ, Hahn CN, Daish T, Rayner JR, Cheah PS, Raison JM, Piltz S, Mann JR, Mattiske DM, Thomas PQ, Adelson DL, Scott HS (2011) Deep sequencing analysis of the developing mouse brain reveals a novel microRNA. BMC Genomics 12:176
17. Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, DÃ¶rr H-G, Rauch A, Thiel CT (2011) Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndromeâ€“like phenotype and hyperactivated MAPK signaling in humans and mice. The Journal of Clinical Investigation 121:3479-3491
18. Kont V, Murumagi A, Tykocinski LO, Kinkel SA, Webster KE, Kisand K, Tserel L, Pihlap M, Strobel P, Scott HS, Marx A, Kyewski B, Peterson P (2011) DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues. Mol Immunol 49:518-526
19. Hubert FX, Kinkel SA, Davey GM, Phipson B, Mueller SN, Liston A, Proietto AI, Cannon PZ, Forehan S, Smyth GK, Wu L, Goodnow CC, Carbone FR, Scott HS, Heath WR (2011) Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance. Blood 118:2462-2472
20. Hahn CN, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C, Babic M, Lin M, Carmagnac A, Lee YK, Butcher CM, Friend KL, Ekert PG, Kok CH, Gagliardi L, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics 43:1012-1017
21. Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, Francois F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B (2011) Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing. J Biol Chem 286:17383-17397
22. Butcher CM, Neufing PJ, Eriksson L, Carmichael CL, Wilkins EJ, Melo JV, Lewis ID, Bardy PG, Scott HS, D'Andrea RJ (2011) RUNX1 mutations are rare in chronic phase polycythaemia vera. Br J Haematol 153:672-675
23. Aricha R, Feferman T, Scott HS, Souroujon MC, Berrih-Aknin S, Fuchs S (2011) The susceptibility of Aire(-/-) mice to experimental myasthenia gravis involves alterations in regulatory T cells. J Autoimmun 36:16-24
24. Ahlgren KM, Moretti S, Lundgren BA, Karlsson I, Ahlin E, Norling A, Hallgren A, Perheentupa J, Gustafsson J, Rorsman F, Crewther PE, Ronnelid J, Bensing S, Scott HS, Kampe O, Romani L, Lobell A (2011) Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. Eur J Immunol 41:235-245.
25. Shi W, de Graaf CA, Kinkel SA, Achtman AH, Baldwin T, Schofield L, Scott HS, Hilton DJ, Smyth GK (2010) Estimating the proportion of microarray probes expressed in an RNA sample. Nucleic Acids Research 38:2168-2176
26. Milicevic Z, Milicevic NM, Laan M, Peterson P, Kisand K, Scott HS, Westermann J (2010) Ultrastructure of medullary thymic epithelial cells of autoimmune regulator (Aire)-deficient mice. Immunology and Cell Biology 88:50-56
27. Ko HJ, Kinkel SA, Hubert FX, Nasa Z, Chan J, Siatskas C, Hirubalan P, Toh BH, Scott HS, Alderuccio F (2010) Transplantation of autoimmune regulator-encoding bone marrow cells delays the onset of experimental autoimmune encephalomyelitis. Eur J Immunol 40:3499-3509
28. Kelly RM, Goren EM, Taylor PA, Mueller SN, Stefanski HE, Osborn MJ, Scott HS, Komarova EA, Gudkov AV, Hollander GA, Blazar BR (2010) Short-term inhibition of p53 combined with keratinocyte growth factor improves thymic epithelial cell recovery and enhances T-cell reconstitution after murine bone marrow transplantation. Blood 115:1088-1097
29. Kedzierska K, Valkenburg SA, Guillonneau C, Hubert FX, Cukalac T, Curtis JM, Stambas J, Scott HS, Kedzierski L, Venturi V, Davenport MP (2010) Diversity and clonotypic composition of influenza-specific CD8(+) TCR repertoires remain unaltered in the absence of Aire. European Journal of Immunology 40:849-858
30. Jongmans MCJ, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AYN, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers E, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N (2010) Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia 24:242-246
31. Hewitt CA, Ling KH, Merson TD, Simpson KM, Ritchie ME, King SL, Pritchard MA, Smyth GK, Thomas T, Scott HS, Voss AK (2010) Gene Network Disruptions and Neurogenesis Defects in the Adult Ts1Cje Mouse Model of Down Syndrome. Plos One 5:e11561
32. Hanifa S, Scott HS, Crewther P, Guipponi M, Tan J (2010) Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice. Neuroreport 21:897-901
33. Guipponi M, Li QX, Hyde L, Beissbarth T, Smyth GK, Masters CL, Scott HS (2010) SAGE Analysis of Genes Differentially Expressed in Presymptomatic TgSOD1(G93A) Transgenic Mice Identified Cellular Processes Involved in Early Stage of ALS Pathology. Journal of Molecular Neuroscience 41:172-182
34. George AJ, Gordon L, Beissbarth T, Koukoulas I, Holsinger RMD, Perreau V, Cappai R, Tan SS, Masters CL, Scott HS, Li QX (2010) A Serial Analysis of Gene Expression Profile of the Alzheimer's Disease Tg2576 Mouse Model. Neurotoxicity Research 17:360-379
35. Cowin PA, Gold E, Aleksova J, O'Bryan MK, Foster PMD, Scott HS, Risbridger GP (2010) Vinclozolin Exposure in Utero Induces Postpubertal Prostatitis and Reduces Sperm Production via a Reversible Hormone-Regulated Mechanism. Endocrinology 151:783-792
36. Carmichael CL, Wilkins EJ, Bengtsson H, Horwitz MS, Speed TP, Vincent PC, Young G, Hahn CN, Escher R, Scott HS (2010) Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes. British Journal of Haematology 150:382-385
37. Roberts NA, Desanti GE, Withers DR, Scott HR, Jenkinson WE, Lane PJL, Jenkinson EJ, Anderson G (2009) Absence of thymus crosstalk in the fetus does not preclude hematopoietic induction of a functional thymus in the adult. European Journal of Immunology 39:2395-2402
38. Milicevic NM, Milicevic Z, Miljkovic MD, Labudovic-Borovic M, Laan M, Peterson P, Kisand K, Scott H, Qu N, Westermann J (2009) Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice. Histochemistry and Cell Biology 131:643-649
39. Ling KH, Hewitt CA, Beissbarth T, Hyde L, Banerjee K, Cheah PS, Cannon PZ, Hahn CN, Thomas PQ, Smyth GK, Tan SS, Thomas T, Scott HS (2009) Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling. Genome Biology 10
40. Laan M, Kisand K, Kont V, Moll K, Tserel L, Scott HS, Peterson P (2009) Autoimmune Regulator Deficiency Results in Decreased Expression of CCR4 and CCR7 Ligands and in Delayed Migration of CD4(+) Thymocytes. Journal of Immunology 183:7682-7691
41. Hubert FX, Kinkel SA, Crewther PE, Cannon PZF, Webster KE, Link M, Uibo R, O'Bryan MK, Meager A, Forehan SP, Smyth GK, Mittaz L, Antonarakis SE, Peterson P, Heath WR, Scott HS (2009) Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype. Journal of Immunology 182:3902-3918
42. Gagliardi L, Hotu C, Casey G, Braund WJ, Ling KH, Dodd T, Manavis J, Devitt PG, Cutfield R, Rudzki Z, Scott HS, Torpy DJ (2009) Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds. Clinical Endocrinology 70:883-891
43. Fletcher AL, Seach N, Reiseger JJ, Lowen TE, Hammett MV, Scott HS, Boyd RL (2009) Reduced Thymic Aire Expression and Abnormal NF-kappa B2 Signaling in a Model of Systemic Autoimmunity. Journal of Immunology 182:2690-2699
44. Fletcher AL, Lowen TE, Sakkal S, Reiseger JJ, Hammett MV, Seach N, Scott HS, Boyd RL, Chidgey AP (2009) Ablation and Regeneration of Tolerance-Inducing Medullary Thymic Epithelial Cells after Cyclosporine, Cyclophosphamide, and Dexamethasone Treatment. Journal of Immunology 183:823-831
45. Carmichael CL, Majewski IJ, Alexander WS, Metcalf D, Hilton DJ, Hewitt CA, Scott HS (2009) Hematopoietic defects in the Ts1Cje mouse model of Down syndrome. Blood 113:1929-1937
46. Campbell IK, Kinkel SA, Drake SF, van Nieuwenhuijze A, Hubert FX, Tarlinton DM, Heath WR, Scott HS, Wicks IP (2009) Autoimmune Regulator Controls T Cell Help for Pathogenetic Autoantibody Production in Collagen-Induced Arthritis. Arthritis and Rheumatism 60:1683-1693
47. White AJ, Withers DR, Parnell SM, Scott HS, Finke D, Lane PJL, Jenkinson EJ, Anderson G (2008) Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input. European Journal of Immunology 38:942-947
48. Seach N, Ueno T, Fletcher AL, Lowen T, Mattesich M, Engwerda CR, Scott HS, Ware CF, Chidgey AP, Gray DHD, Boyd RL (2008) The lymphotoxin pathway regulates Aire-independent expression of ectopic genes and chemokines in thymic stromal cells. Journal of Immunology 180:5384-5392
49. Schaller CE, Wang CL, Beck-Engeser G, Goss L, Scott HS, Anderson MS, Wabl M (2008) Expression of Aire and the early wave of apoptosis in spermatogenesis. Journal of Immunology 180:1338-1343
50. Pitt LA, Hubert FX, Scott HS, Godfrey DI, Berzins SP (2008) NKT cell development in the absence of the autoimmune regulator gene (Aire). European Journal of Immunology 38:2689-2696
51. Michaud J, Simpson KM, Escher R, Buchet-Poyau K, Beissbarth T, Carmichael C, Ritchie ME, Schutz F, Cannon P, Liu M, Shen X, Ito Y, Raskind WH, Horwitz MS, Osato M, Turner DR, Speed TP, Kavallaris M, Smyth GK, Scott HS (2008) Integrative analysis of RUNX1 downstream pathways and target genes. Bmc Genomics 9
52. Kont V, Laan M, Kisand K, Merits A, Scott HS, Peterson P (2008) Modulation of Aire regulates the expression of tissue-restricted antigens. Molecular Immunology 45:25-33
53. Kisand K, Link M, Wolff ASB, Meager A, Tserel L, Org T, Murumagi A, Uibo R, Willcox N, Podkrajsek KT, Battelino T, Lobell A, Kampe O, Lima K, Meloni A, Ergun-Longmire B, Maclaren NK, Perheentupa J, Krohn KJE, Scott HS, Husebye ES, Peterson P (2008) Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes. Blood 112:2657-2666
54. Irla M, Hugues S, Gill J, Nitta T, Hikosaka Y, Williams IR, Hubert FX, Scott HS, Takahama Y, Hollander GA, Reith W (2008) Autoantigen-specific interactions with CD4(+) thymocytes control mature medullary thymic epithelial cell cellularity. Immunity 29:451-463
55. Hubert FX, Kinkel SA, Webster KE, Cannon P, Crewther PE, Proeitto AI, Wu L, Heath WR, Scott HS (2008) A specific anti-Aire antibody reveals Aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery. Journal of Immunology 180:3824-3832
56. Guipponi M, Toh MY, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZF, Wu QY, Gout A, Delorenzi M, Speed TP, Smith RJH, Dahl HH, Petersen M, Teasdale RD, Estivill X, Park WJ, Scott HS (2008) An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Human Mutation 29:130-141
57. Ferguson BJ, Alexander C, Rossi SW, Liiv I, Rebane A, Worth CL, Wong J, Laan M, Peterson P, Jenkinson EJ, Anderson G, Scott HS, Cooke A, Rich T (2008) AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity. Journal of Biological Chemistry 283:1723-1731
58. Butcher CM, Hahn U, To LB, Gecz J, Wilkins EJ, Scott HS, Bardy PG, D'Andrea RJ (2008) Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia 22:870-873
59. Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen. New England Journal of Medicine 358:1018-1028
60. Scarpino S, Di Napoli A, Stoppacciaro A, Antonelli M, Pilozzi E, Chiarle R, Palestro G, Marino M, Facciolo F, Rendina EA, Webster KE, Kinkel SA, Scott HS, Ruco L (2007) Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas. Clinical and Experimental Immunology 149:504-512
61. Rossi SW, Kim MY, Leibbrandt A, Parnell SM, Jenkinson WE, Glanville SH, McConnell FM, Scott HS, Penninger JM, Jenkinson EJ, Lane PJL, Anderson G (2007) RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla. Journal of Experimental Medicine 204:1267-1272
62. Rossi SW, Chidgey AP, Parnell SM, Jenkinson WE, Scott HS, Boyd RL, Jenkinson EJ, Anderson G (2007) Redefining epithelial progenitor potential in the developing thymus. European Journal of Immunology 37:2411-2418
63. Hewitt CA, Carmichael CL, Wilkins EJ, Cannon PZF, Pritchard MA, Scott HS (2007) Multiplex ligation-dependent probe amplification (MLPA) genotyping assay for mouse models of down syndrome. Frontiers in Bioscience 12:3010-3016
64. Hamazaki Y, Fujita H, Kobayashi T, Choi Y, Scott HS, Matsumoto M, Minato N (2007) Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin. Nature Immunology 8:304-311
65. Guipponi M, Tan J, Cannon PZF, Donley L, Crewther P, Clarke M, Wu QY, Shepherd RK, Scott HS (2007) Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss. American Journal of Pathology 171:608-616
66. Escher R, Wilson P, Carmichael C, Suppiah R, Liu M, Kavallaris M, Cannon P, Michaud J, Scott HS (2007) A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12 : 21) positive pre-B acute lymphoblastic leukemia. Blood Cells Molecules and Diseases 39:107-114
67. Chong SY, Vickaryous N, Ashe A, Zamudio N, Youngson N, Hemley S, Stopka T, Skoultchi A, Matthews J, Scott HS, de Kretser D, O'Bryan M, Blewitt M, Whitelaw E (2007) Modifiers of epigenetic reprogramming show paternal effects in the mouse. Nature Genetics 39:614-622
68. Stevenson WS, Hoyt R, Bell A, Guipponi M, Juneja S, Grigg AP, Curtis DJ, Scott HS, Szer J, Alexander WS, Tuckfield A, Roberts AW (2006) Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: Implications for mutation detection in peripheral blood. Pathology 38:336-342
69. Sang Q, Kim MH, Kumar S, Bye N, Morganti-Kossman MC, Gunnersen J, Fuller S, Howitt J, Hyde L, Beissbarth T, Scott HS, Silke J, Tan SS (2006) Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury. Journal of Neuroscience 26:7234-7244
70. George AJ, Holsinger RMD, McLean CA, Tan SS, Scott HS, Cardamone T, Cappai R, Masters CL, Li QX (2006) Decreased phosphatidylethanolamine binding protein expression correlates with A beta accumulation in the Tg2576 mouse model of Alzheimer's disease. Neurobiology of Aging 27:614-623
71. Brown AL, Wilkinson CR, Waterman SR, Kok CH, Salerno DG, Diakiw SM, Reynolds B, Scott HS, Tsykin A, Glonek GF, Goodall GJ, Solomon PJ, Gonda TJ, D'Andrea RJ (2006) Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling. Journal of Leukocyte Biology 80:433-447
72. Webster KE, O'Bryan MK, Fletcher S, Crewther PE, Aapola U, Craig J, Harrison DK, Aung H, Phutikanit N, Lyle R, Meachem SJ, Antonarakis SE, de Krester DM, Hedger MP, Peterson P, Carroll BJ, Scott HS (2005) Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proceedings of the National Academy of Sciences of the United States of America 102:4068-4073
73. Smyth GK, Michaud J, Scott HS (2005) Use of within-array replicate spots for assessing differential expression in microarray experiments. Bioinformatics 21:2067-2075
74. Guipponi M, Herbert S, Toh MY, Poetter K, Forrest S, Scott HS (2005) Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput. Biotechniques 39:34-+
75. Brodnicki TC, Fletcher AL, Pellicci DG, Berzins SP, McClive P, Quirk F, Webster KE, Scott HS, Boyd RL, Godfrey DI, Morahan G (2005) Localization of Idd11 is not associated with thymus and NKT cell abnormalities in NOD mice. Diabetes 54:3453-3457
76. Menzel O, Bekkeheien RCJ, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M (2004) Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Human Mutation 23:77-84
77. Liston A, Gray DHD, Lesage S, Fletcher AL, Wilson J, Webster KE, Scott HS, Boyd RL, Peltonen L, Goodnow CC (2004) Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity. Journal of Experimental Medicine 200:1015-1026
78. Koukoulas I, Augustine C, Silkenbeumer N, Gunnersen JM, Scott HS, Tan SS (2004) Genomic organisation and nervous system expression of radial spoke protein 3. Gene 336:15-23
79. Escher R, Mühlematter D, Scott HS, Jotterand M, Tobler A (2004) Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. Haematologica 89:ECR26
80. Escher R, Jones A, Hagos F, Carmichael C, Horwitz M, Olopade OI, Scott HS (2004) Chromosome band 16q22-linked familial AML: Exclusion of candidate genes, and possible disease risk modification by NQOI polymorphisms. Genes Chromosomes & Cancer 41:278-282
81. Escher R, Hagos F, Michaud J, Sveen L, Horwitz M, Olopade OI, Scott HS (2004) No evidence for core-binding factor CBF beta as a leukemia predisposing factor in chromosome 16q22-linked familial AML. Leukemia 18:881-881
82. Boon WM, Beissbarth T, Hyde L, Smyth G, Gunnersen J, Denton DA, Scott H, Tan SS (2004) A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering. Proceedings of the National Academy of Sciences of the United States of America 101:14972-14977
83. Beissbarth T, Hyde L, Smyth GK, Job C, Boon WM, Tan SS, Scott HS, Speed TP (2004) Statistical modeling of sequencing errors in SAGE libraries. Bioinformatics-Oxford 20:31-39
84. Wang CY, Shi JD, Yang P, Kumar PG, Li QZ, Run QG, Su YC, Scott HS, Kao KJ, She JX (2003) Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). Gene 306:37-44
85. Friedli M, Guipponi M, Bertrand S, Bertrand D, Neerman-Arbez M, Scott HS, Antonarakis SE, Reymond A (2003) Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Gene 320:31-40
86. Blackshaw S, Kuo WP, Park PJ, Tsujikawa M, Gunnersen JM, Scott HS, Boon WM, Tan SS, Cepko CL (2003) MicroSAGE is highly representative and reproducible but reveals major differences in gene expression among samples obtained from similar tissues. Genome Biology 4:R17
87. Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HHM, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE (2002) Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Journal of Molecular Medicine-Jmm 80:124-131
88. Michaud J, Wu F, Osato M, Cotties GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS (2002) In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 99:1364-1372
89. Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC (2002) The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Human Molecular Genetics 11:2829-2836
90. Wattenhofer M, Shibuya K, Kudoh J, Lyle R, Michaud J, Rossier C, Kawasaki K, Asakawa S, Minoshima S, Berry A, Bonne-Tamir B, Shimizu N, Antonarakis SE, Scott HS (2001) Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Human Genetics 108:140-147
91. Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE (2001) Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nature Genetics 27:59-63
92. Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boutila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M (2001) Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Human Mutation 18:101-108
93. Deutsch S, Iseli C, Bucher P, Antonarakis SE, Scott HS (2001) A cSNP map and database for human chromosome 21. Genome Research 11:300-307
94. Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scot HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ (2001) Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. Journal of Medical Genetics 38:396-400
95. Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE (2001) Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics 72:21-33
96. Pitkanen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vahamurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn K, Peterson P (2000) The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. Journal of Biological Chemistry 275:16802-16809
97. Michaud J, Kudoh J, Berry A, Bonne-Tamir B, Lalioti MD, Rossier C, Shibuya K, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis SE, Scott HS (2000) Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Genomics 68:71-79
98. Heino M, Peterson P, Sillanpaa N, Guerin S, Wu L, Anderson G, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Jenkinson EJ, Naquet P, Krohn KJE (2000) RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. European Journal of Immunology 30:1884-1893
99. Guipponi M, Brunschwig K, Chamoun Z, Scott HS, Shibuya K, Kudoh J, Delezoide AL, El Samadi S, Chettouh Z, Rossier C, Shimizu N, Mueller F, Delabar JM, Antonarakis SE (2000) C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Genomics 68:30-40
100. Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE (2000) The mouse brain transcriptome by SAGE: Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Research 10:2006-2021
101. Chrast R, Scott HS, Madani R, Huber L, Wolfer DP, Prinz M, Aguzzi A, Lipp HP, Antonarakis SE (2000) Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome. Human Molecular Genetics 9:1853-1864
102. Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonne-Tamir B (2000) Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics 68:22-29
103. Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ERB, Minoshima S, Shimizu N, Scott HS, Antonarakis SE (2000) Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Genomics 70:190-200
104. Aapola U, Shibuya K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE, Shimizu N, Kudoh J, Peterson P (2000) Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. Genomics 65:293-298
105. Roessler E, Mittaz L, Du YZ, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SPT, Muenke M, Antonarakis SE (1999) Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Human Genetics 105:489-495
106. Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE (1999) The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. American Journal of Human Genetics 65:645-655
107. Mittaz L, Rossier C, Heino M, Peterson P, Krohn KJE, Gos A, Morris MA, Kudoh J, Shimizu N, Antonarakis SE, Scott HS (1999) Isolation and characterization of the mouse Aire gene. Biochemical and Biophysical Research Communications 255:483-490
108. Lalioti MD, Scott HS, Antonarakis SE (1999) Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Human Molecular Genetics 8:1791-1798
109. Heino M, Scott HS, Chen QY, Peterson P, Maenpaa U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K (1999) Mutation analyses of North American APS-1 patients. Human Mutation 13:69-74
110. Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn K (1999) Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochemical and Biophysical Research Communications 257:821-825
111. Chrast R, Scott HS, Antonarakis SE (1999) Linearization and purification of BAC DNA for the development of transgenic mice. Transgenic Research 8:147-150
112. Chen HM, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE (1999) A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Human Genetics 105:399-409
113. Scott HS, Kyriakou DS, Peterson P, Heino M, Tahtinen M, Krohn K, Chen HM, Rossier C, Lalioti MD, Antonarakis SE (1998) Characterization of a novel gene, C21orf2, an human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Genomics 47:64-70
114. Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJE, Antonarakis SE (1998) Common mutations in autoimmune polyendocrinopathy-candidiasis ectodermal dystrophy patients of different origins. Molecular Endocrinology 12:1112-1119
115. Scott HS, Antonarakis SE, Lalioti MD, Rossier C, Silver PA, Henry MF (1998) Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2). Genomics 48:330-340
116. Rosatelli MC, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJE, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE (1998) A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Human Genetics 103:428-434
117. Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE (1998) Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. American Journal of Human Genetics 63:1641-1650
118. Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Creau N, Brahe C (1998) Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics 49:1-13
119. Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE (1998) A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. American Journal of Human Genetics 62:842-847
120. Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Chen HM, Lalioti MD, Rossier C, Minoshima S, Shimizu N, Antonarakis SE (1998) Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence. Human Genetics 103:386-392
121. Guipponi M, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE (1998) Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1 -> q22.2. Cytogenetics and Cell Genetics 83:218-220
122. Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE (1998) Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon. Genomics 53:369-376
123. Scott HS, Chen HM, Rossier C, Lalioti MD, Antonarakis SE (1997) Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q122.3. Human Genetics 99:616-623
124. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nature Genetics 17:393-398
125. Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE (1997) Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. Genomics 41:210-217
126. Mittaz L, Antonarakis SE, Higuchi M, Scott HS (1997) Localization of a novel human RNA-editing deaminase (hRED2, or ADARB2) to chromosome 10p15. Human Genetics 100:398-400
127. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847-851
128. Lalioti MD, Scott HS, Antonarakis SE (1997) What is expanded in progressive myoclonus epilepsy? Nature Genetics 17:17-17
129. Krohn K, Ovod V, Vilja P, Heino M, Scott H, Kyriakou DS, Antonarakis S, Jacobs HT, Isola J, Peterson P (1997) Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. Biochemical and Biophysical Research Communications 238:806-810
130. Gatti R, DiNatale P, Villani GRD, Filocamo M, Muller V, Guo XH, Nelson PV, Scott HS, Hopwood JJ (1997) Mutations among Italian mucopolysaccharidosis type I patients. Journal of Inherited Metabolic Disease 20:803-806
131. Chrast R, Scott HS, Chen HM, Kudoh J, Rossier C, Minoshima S, Wang YM, Shimizu N, Antonarakis SE (1997) Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the down syndrome chromosomal region. Genome Research 7:615-624
132. Chicheportiche Y, Bourdon PR, Xu HD, Hsu YM, Scott H, Hession C, Garcia I, Browning JL (1997) TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis. Journal of Biological Chemistry 272:32401-32410
133. Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ (1997) Molecular defects in Sanfilippo syndrome type A. Human Molecular Genetics 6:787-791
134. Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ (1996) Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Human Molecular Genetics 5:771-777
135. Karageorgos LE, Guo X-H, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ (1996) Structure and Sequence of the Human Sulphamidase Gene. DNA Res 3:269-271
136. Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (1995) CLONING OF THE SULFAMIDASE GENE AND IDENTIFICATION OF MUTATIONS IN SANFILIPPO-A-SYNDROME. Nature Genetics 11:465-467
137. Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS (1994) MORQUIO-A-SYNDROME - CLONING, SEQUENCE, AND STRUCTURE OF THE HUMAN N-ACETYLGALACTOSAMINE 6-SULFATASE (GALNS) GENE. Genomics 22:652-654
138. Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS (1994) MUTATION ANALYSIS OF 19 NORTH-AMERICAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS - IDENTIFICATION OF 2 ADDITIONAL FREQUENT MUTATIONS. Human Mutation 3:275-282
139. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A (1994) MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF 8 NOVEL MUTATIONS AND DETERMINATION OF THE FREQUENCY OF THE 2 COMMON ALPHA-1-IDURONIDASE MUTATIONS (W402X AND Q70X) AMONG EUROPEAN PATIENTS. Human Molecular Genetics 3:861-866
140. Scott HS, Nelson PV, Litjens T, Hopwood JJ, Morris CP (1993) MULTIPLE POLYMORPHISMS WITHIN THE ALPHA-L-IDURONIDASE GENE (IDUA) - IMPLICATIONS FOR A ROLE IN MODIFICATION OF MPS-I DISEASE PHENOTYPE. Human Molecular Genetics 2:1471-1473
141. Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP (1993) IDENTIFICATION OF MUTATIONS IN THE ALPHA-L-IDURONIDASE GENE (IDUA) THAT CAUSE HURLER AND SCHEIE SYNDROMES. American Journal of Human Genetics 53:973-986
142. Hopwood JJ, Vellodi A, Scott HS, Morris CP, Litjens T, Clements PR, Brooks DA, Cooper A, Wraith JE (1993) LONG-TERM CLINICAL-PROGRESS IN BONE-MARROW TRANSPLANTED MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS WITH A DEFINED GENOTYPE. Journal of Inherited Metabolic Disease 16:1024-1033
143. Clarke LA, Scott HS (1993) 2 NOVEL MUTATIONS CAUSING MUCOPOLYSACCHARIDOSIS TYPE-1 DETECTED BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS OF THE ALPHA-L-IDURONIDASE GENE. Human Molecular Genetics 2:1311-1312
144. Scott HS, Nelson PV, Macdonald ME, Gusella JF, Hopwood JJ, Morris CP (1992) AN 86-BP VNTR WITHIN IDUA IS THE BASIS OF THE D4S111 POLYMORPHIC LOCUS. Genomics 14:1118-1120
145. Scott HS, Nelson PV, Cooper A, Wraith JE, Hopwood JJ, Morris CP (1992) MUCOPOLYSACCHARIDOSIS TYPE-I (HURLER SYNDROME) - LINKAGE DISEQUILIBRIUM INDICATES THE PRESENCE OF A MAJOR ALLELE. Human Genetics 88:701-702
146. Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP (1992) alpha-L-iduronidase mutations Q70X and P533R associate with a severe Hurler phenotype. Human Mutation 1:333-339
147. Scott HS, Litjens T, Hopwood JJ, Morris CP (1992) A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Human Mutation 1:103-108
148. Scott HS, Litjens T, Hopwood JJ, Morris CP (1992) PCR DETECTION OF 2 RFLPS IN EXON-I OF THE ALPHA-L-IDURONIDASE (IDUA) GENE. Human Genetics 90:327-327
149. Scott HS, Guo XH, Hopwood JJ, Morris CP (1992) STRUCTURE AND SEQUENCE OF THE HUMAN ALPHA-L-IDURONIDASE GENE. Genomics 13:1311-1313
150. Koizumi T, Macdonald M, Bucan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH (1992) LINKAGE, BUT NOT GENE ORDER, OF HOMOLOGOUS LOCI, INCLUDING ALPHA-L-IDURONIDASE (IDUA), IS CONSERVED IN THE HUNTINGTON DISEASE REGION OF THE MOUSE AND HUMAN GENOMES. Mammalian Genome 3:23-27
151. Scott HS, Nelson PV, Hopwood JJ, Morris CP (1991) PCR OF A VNTR LINKED TO MUCOPOLYSACCHARIDOSIS TYPE-I AND HUNTINGTON DISEASE. Nucleic Acids Research 19:6348-6348
152. Scott HS, Nelson PV, Hopwood JJ, Morris CP (1991) PCR OF A KPNI RFLP IN THE ALPHA-L-IDURONIDASE (IDUA) GENE. Nucleic Acids Research 19:5796-5796
153. Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP, Hopwood JJ (1991) HUMAN ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION. Proceedings of the National Academy of Sciences of the United States of America 88:9695-9699
154. Macdonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF (1991) HUNTINGTON DISEASE-LINKED LOCUS D4S111 EXPOSED AS THE ALPHA-L-IDURONIDASE GENE. Somatic Cell and Molecular Genetics 17:421-425
155. Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF, Sutherland GR, Morris CP, Hopwood JJ (1990) CHROMOSOMAL LOCALIZATION OF THE HUMAN ALPHA-L-IDURONIDASE GENE (IDUA) TO 4P16.3. American Journal of Human Genetics 47:802-807
1. The Royal College of Pathologists of Australasia (RCPA).
2. Australian Genomics Health Alliance National Steering Committee (AGHA).
3. Genomic Healthcare Alliance (GHA).
4. Human Genetics Society of Australasia (HGSA).
5. American Society of Hematology (ASH).
6.Australasian Leukaemia & Lymphoma Group (ALLG).
7.Healthy Development Adelaide (HDA).
8.Australasian Genomic and Associated Technologies Association - (AMATA)
9. South Australian convenor of the Australian Epigenetic Alliance.
10. South Australian Medical Scientists Association.
11. Australian Society of Immunology.
12. National Association of Research Fellows (NARF) of NHMRC, Incorporated
13. The American Society of Human Genetics
14. The Human Genetics Society of Australasia
15. Australian Society of Medical Research
16.The Genetics Society of Australia.
Current Research & Highlights
All disease processes in humans have a genetic component, either inherited or acquired by somatic mutation during cell division. It is important to identify genes and mutations that cause disease, predispose families to diseases, or are acquired during disease progression as these are important diagnostic and prognostic markers. They also provide direct targets and biological pathways for therapeutic intervention.
The Molecular Pathology department is co-located with the ACRF Cancer Genomics Facility, which provides access to powerful cutting edge genetic/genomic technologies including bioinformatics, next-generation sequencing and sample preparation robotics. The Department performs both basic and translational research, which includes implementing these new technologies into its diagnostic tests for personalized medicine.
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Entry last updated: Monday, 18 Dec 2017
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