Molecular and Human Genetics
Dr. Lee's group demonstrated that the cartilage-associated protein (CRTAP) gene encodes a function that is required for prolyl-3 hydroxylation of collagen. He and his colleagues have shown that loss of function mutations in the CRTAP gene causes a recessive lethal form of osteogenesis imperfecta.
Dr. Lee's laboratory also described the dominance of SOX9 over RUNX2 in determining the cell fate decision between chondrogenic and osteogenic lineages in mesenchymal stem cells during skeletogenesis.
Dr. Lee's nomination was based on the following publications:
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, B'chinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304.
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci USA. 2006 Dec 12;103(50):19004-9.
Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.N Engl J Med. 2006 Dec 28;355(26):2757-64.