Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

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 in...

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Bibliographic Details
Main Authors: Alexandra M Lopes, Kenneth I Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B Wilfert, Juncheng Dai, Jonathan M Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E Hurles, Sergey Moskovtsev, Carole Ober, Darius A Paduch, Joshua D Schiffman, Peter N Schlegel, Mário Sousa, Douglas T Carrell, Donald F Conrad
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3605256?pdf=render

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http://europepmc.org/articles/PMC3605256?pdf=render

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