Article
A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.
Science translational medicine - 20 Jul 2011
Tollner Theodore L, Venners Scott A, Hollox Edward J, Yudin Ashley I, Liu Xue, Tang Genfu, Xing Houxun, Kays Robert J, Lau Tsang, Overstreet James W, Xu Xiping, Bevins Charles L, Cherr Gary N
Abstract excerpt
A glycosylated polypeptide, β-defensin 126 (DEFB126), derived from the epididymis and adsorbed onto the sperm surface, has been implicated in immunoprotection and efficient movement of sperm in mucosal fluids of the female reproductive tract. Here, we report a sequence variant in DEFB126 that has a two-nucleotide deletion in the open reading frame, which generates an abnormal mRNA. The allele frequency of this...
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