Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

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 and Donald F Conrad

PLOS Genetics, 2013, vol. 9, issue 3, 1-16

Abstract: 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 genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, we estimate that each rare autosomal deletion detected in our study multiplicatively changes a man's risk of disease by 10% (OR 1.10 [1.04–1.16], p

Date: 2013
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pgen00:1003349

DOI: 10.1371/journal.pgen.1003349

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