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 Author: Lopes, Alexandra (author)
Other Authors: Aston, Kenneth I. (author), Thompson, Emma E (author), Carvalho, Filipa (author), Gonçalves, João (author), Huang, N. (author), Matthiesen, Rune (author), Noordam, Michiel J. (author), Quintela, Ines (author), Ramu, Avinash (author), Seabra, Catarina (author), Wilfert, Amy B. (author), Dai, Juncheng (author), Downie, Jonathan (author), Fernandes, Susana (author), Guo, Xuejiang (author), Shah, Jiahao (author), Amorim, Antonio (author), Barros, Alberto (author), Carracedo, A. (author), Hu, Z. (author), Hurles, M.E. (author), Moskovtsev, S. (author), Ober, C. (author), Paduch, D.A. (author), Schiffman, J.D. (author), Schlegel, P.N. (author), Sousa, M. (author), Carrell, D.T. (author), Conrad, D.F. (author)
Format: article
Language:eng
Published: 2014
Subjects:
Human Infertility
Human Spermatogenesis
Male Infertility
DMRT1
CNV
Azoospermia
Oligozoospermia
Array
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/2157
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2157

Internet

http://hdl.handle.net/10400.18/2157

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