Human Genomics in Development and Disease

John Loke


A molecular biologist, John Loke investigates the genetic basis for disorders of sex development and cancer. He dissected the findings of genetic discoveries into intricate pathways and is currently studying in great detail the MAP kinase pathway in gonadal development by flow cytometry proteomics and next generation parallel sequencing. His recent publication in the American Journal of Human Genetics (2010 Dec 10; 87(6):898-904) on the role of MAP3K1 as “Genetic Switch” in human sex divergence during development, was widely received by the media and the scientific community. 

He is also working closely with Drs. Ostrer and Pearlman to further the development of the metastatic signature for prostate and breast cancer predictions so it can be used to identify people’s risks for having a disease, or its outcome once it has occurred. 


1: Loke J, Ostrer H. Rapidly Screening Variants of Uncertain Significance in the MAP3K1 Gene for Phenotypic Effects. Clin Genet. 2011 Dec 15. doi:10.1111/j.1399-0004.2011.01834.x. [Epub ahead of print] PubMed PMID: 22171599.

2: Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. PubMed PMID: 21129722; PubMed Central PMCID: PMC2997363.

3: Lee TF, Mak KM, Rackovsky O, Lin YL, Kwong AJ, Loke JC, Friedman SL. Downregulation of hepatic stellate cell activation by retinol and palmitate mediated by adipose differentiation-related protein (ADRP). J Cell Physiol. 2010 Jun;223(3):648-57. PubMed PMID: 20143336; PubMed Central PMCID: PMC2913969.

4: Guo J, Loke J, Zheng F, Hong F, Yea S, Fukata M, Tarocchi M, Abar OT, Huang H, Sninsky JJ, Friedman SL. Functional linkage of cirrhosis-predictive single nucleotide polymorphisms of Toll-like receptor 4 to hepatic stellate cell responses. Hepatology. 2009 Mar;49(3):960-8. PubMed PMID: 19085953; PubMed Central PMCID: PMC2891538.

5: Hong F, Tuyama A, Lee TF, Loke J, Agarwal R, Cheng X, Garg A, Fiel MI, Schwartz M, Walewski J, Branch A, Schecter AD, Bansal MB. Hepatic stellate cells express functional CXCR4: role in stromal cell-derived factor-1alpha-mediated stellate cell activation. Hepatology. 2009 Jun;49(6):2055-67. PubMed PMID: 19434726; PubMed Central PMCID: PMC2893547.

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