Alterations in synaptonemal complex coding genes and human infertility.
Alterations in synaptonemal complex coding genes and human infertility.
复制标题
联会复合体编码基因的改变与人类不育
DOI：
10.7150/ijbs.67843
复制
发表时间：
2022
影响因子：
9.2
通讯作者：
Gao J
中科院分区：
文献类型：
--
作者：
Zhang F;Liu M;Gao J
About 10% of reproductive-aged couples suffer from infertility. However, the genetic causes of human infertility cases are largely unknown. Meiosis produces haploid gametes for fertilization and errors in meiosis are associated with human infertility in both males and females. Successful meiosis relies on the assembly of the synaptonemal complex (SC) between paired homologous chromosomes during the meiotic prophase. The SC is ultrastructurally and functionally conserved, promoting inter-homologous recombination and crossover formation, thus critical for accurate meiotic chromosome segregation. With whole-genome/exome sequencing and mouse models, a list of mutations in SC coding genes has been linked to human infertility. Here we summarize those findings. We also analyzed SC gene variants present in the general population and presented complex interaction networks associated with SC components. Whether a combination of genetic variations and environmental factors causes human infertility demands further investigations.
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DOI：
10.1093/humrep/deab192
发表时间：
2021-10-18
期刊：
Human reproduction (Oxford, England)
影响因子：
--
作者：
Bestetti I;Barbieri C;Sironi A;Specchia V;Yatsenko SA;De Donno MD;Caslini C;Gentilini D;Crippa M;Larizza L;Marozzi A;Rajkovic A;Toniolo D;Bozzetti MP;Finelli P
通讯作者：
Finelli P
DOI：
10.1073/pnas.1815912115
发表时间：
2018-11-20
影响因子：
11.1
作者：
Gao A;Shrinivas K;Lepeudry P;Suzuki HI;Sharp PA;Chakraborty AK
通讯作者：
Chakraborty AK
DOI：
10.1073/pnas.2021671118
发表时间：
2021-04-06
影响因子：
11.1
作者：
France MG;Enderle J;Röhrig S;Puchta H;Franklin FCH;Higgins JD
通讯作者：
Higgins JD
影响因子：
16.8
作者：
Dunce JM;Dunne OM;Ratcliff M;Millán C;Madgwick S;Usón I;Davies OR
通讯作者：
Davies OR
影响因子：
1.6
作者：
Dunne, Orla M.;Davies, Owen R.
通讯作者：
Davies, Owen R.