Article
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
PLoS genetics - 1 Mar 2013
Lopes Alexandra M, Aston Kenneth I, Thompson Emma, Carvalho Filipa, Gonçalves João, Huang Ni, Matthiesen Rune, Noordam Michiel J, Quintela Inés, Ramu Avinash, Seabra Catarina, Wilfert Amy B, Dai Juncheng, Downie Jonathan M, Fernandes Susana, Guo Xuejiang, Sha Jiahao, Amorim António, Barros Alberto, Carracedo Angel, Hu Zhibin, Hurles Matthew E, Moskovtsev Sergey, Ober Carole, Paduch Darius A, Schiffman Joshua D, Schlegel Peter N, Sousa Mário, Carrell Douglas T, Conrad Donald F
Abstract excerpt
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population. We hypothesized that men with spermatogenic impairment, a disease with unknown genetic architecture and a common cause of male infertility, are enriched for rare deleterious mutations compared to men with normal spermatogenesis. After assaying...
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