Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromos...
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1
About this item
Full title
Author / Creator
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 and Conrad, Donald F
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 mutat...
Alternative Titles
Full title
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1327763976
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1327763976
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1003349
