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Article

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.

American journal of human genetics - 4 Feb 2021

Fan Suixing, Jiao Yuying, Khan Ranjha, Jiang Xiaohua, Javed Abdul Rafay, Ali Asim, Zhang Huan, Zhou Jianteng, Naeem Muhammad, Murtaza Ghulam, Li Yang, Yang Gang, Zaman Qumar, Zubair Muhammad, Guan Haiyang, Zhang Xingxia, Ma Hui, Jiang Hanwei, Ali Haider, Dil Sobia, Shah Wasim, Ahmad Niaz, Zhang Yuanwei, Shi Qinghua

Abstract excerpt

Human infertility is a multifactorial disease that affects 8%-12% of reproductive-aged couples worldwide. However, the genetic causes of human infertility are still poorly understood. Synaptonemal complex (SC) is a conserved tripartite structure that holds homologous chromosomes together and plays an indispensable role in the meiotic progression. Here, we identified three homozygous mutations in the SC coding...

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Identifiers

PMID: 33508233
DOI: 10.1016/j.ajhg.2021.01.010
PMCID: PMC7895996

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Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.PMID 33508233Read ↗

In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.Semantic proximity Read ↗

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Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertilitySemantic proximity Read ↗

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility.Semantic proximity Read ↗

C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility.Semantic proximity Read ↗

Alterations in synaptonemal complex coding genes and human infertilitySemantic proximity Read ↗

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