Kit-Sang Au, Ph.D.
1992, Baylor College of Medicine
UT-Houston Medical
School
Pediatrics (Medical Genetics)
|
Kit-Sang Au, Ph.D. 1992, Baylor College of Medicine UT-Houston Medical
School |
Research Interests: tumor suppressor genes structure and function; genotype phenotype correlation; modifier genes; gene and disease association study; gene-gene interaction; gene-environment interaction; neural tube defects
The research in my laboratory is directed at identifying genes contributing to the phenotypes of two genetic diseases including tuberous sclerosis complex (TSC) and neural tube defects (NTDs). Special interest in our lab is to identify variants of genes that modify the disease symptom presentation of patients with TSC. TSC is caused by mutation of one of the two tumor suppressor genes—TSC1 or TSC2. The cellular functions of proteins expressed from TSC1 and TSC2 include modulating protein translation through inactivating small G protein (RHEB) that activates the mammalian target of rapamycin (mTOR) protein. We are interested in identifying variants of genes directly participating to regulate mTOR that may modify the activity of the TSC1 and TSC2 proteins.
The second main project in the lab is aiming at identifying variants of genes and environmental factors causing NTD. We genotype genetic markers from a list of candidate genes identified from NTD mouse models or genes related to neural tube development using fluorescent-STR and SNPlex platforms. Association of markers with NTD risk is analyzed using both case-control and transmission disequilibrium test statistical methods. Genes associated with NTD risk will be sequenced to identify disease related variants and study biologic significances of the variants.
Depending
on the student’s interests, a tutorial in my laboratory would provide
experience with human genetics, DNA sequencing, genetic marker genotyping, statistical
analysis methods, generic microarray experiments, basic cloning and molecular
biology methods (Southern, Northern, Western) for gene function studies, and
basic tissue culture methods.
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Khare L, Strizheve GD, Bailey JN, Au KS, Northrup H, Smith M, Smalley SL, Henske EP (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. J Med Genetc. 38(5):347-9.
Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H (2003) Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.J Med Genet. 40(1):42-4.
Au KS , Williams AT, Gambello MJ, Northrup H (2004) Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.J Child Neurol. 19(9):699-709.
Au KS, Northrup H, Kirkpatrick TJ, Volcik KA, Fletcher JM, Towsend IT, Blanton SH, Tyerman GH, Villarreal G, King TM (2005) Promotor genotype of the platelet-derived growth factor receptor-a gene shows population stratification but not association with spina bifida meningomyelocele. Amer. J. Med. Genet. 139(3):194-8.
Northrup
H, Au KS (2005) Tuberous Sclerosis Complex in: GeneReviews at GeneTests: Medical
Genetics Information Resource [database online]. Copyright, University of
Washington, Seattle. 1997-2006. Available at http://www.genetests.org.
Woerner AC, Au KS, Williams AT, Harris PC, Northup H (2006). Tuberous Sclerosis
Complex and Polycystic Kidney Disease Together: An Exception to the Contiguous
Gene Syndrome. Genet in Med 8(3):197-198.
Kozlowski
P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela
D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications
in TSC1 and TSC2 using MLPA, and genotype-phenotype
correlations. Genet (in press) 2006.
Au
KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW,
Baumgartner JE, Roa BB, Wilson AM, Smith-Knuppel TK, Cheung MC, Whittermore
VH, King TM, Northrup H. Genotype/Phenotype Correlation in 325 Individuals
Referred for a Diagnosis of Tuberous Sclerosis Complex in