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Missing heritability: paternal age effect mutations and selfish spermatogonia.

作者信息

Goriely Anne, Wilkie Andrew O M

出版信息

Nat Rev Genet. 2010 Aug;11(8):589. doi: 10.1038/nrg2809-c1.

DOI:10.1038/nrg2809-c1
PMID:20634812
Abstract
摘要

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Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9.
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Missing heritability and strategies for finding the underlying causes of complex disease.复杂疾病遗传率缺失及其潜在病因的研究策略。
Nat Rev Genet. 2010 Jun;11(6):446-50. doi: 10.1038/nrg2809.
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Uncovering the roles of rare variants in common disease through whole-genome sequencing.通过全基因组测序揭示常见疾病中罕见变异的作用。
母女携带相同致病变异体但表型不一致。
Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161.
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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.自闭症的表型谱归因于罕见变异、多基因风险和性别的综合影响。
Nat Genet. 2022 Sep;54(9):1284-1292. doi: 10.1038/s41588-022-01064-5. Epub 2022 Jun 2.
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Genetic Causes of Craniosynostosis: An Update.颅缝早闭的遗传病因：最新进展
Mol Syndromol. 2019 Feb;10(1-2):6-23. doi: 10.1159/000492266. Epub 2018 Aug 15.
6
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.新发突变的产前诊断：来自一家三级中心10年的经验。
Mol Genet Genomic Med. 2019 Apr;7(4):e00573. doi: 10.1002/mgg3.573. Epub 2019 Jan 28.
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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.新生错义突变的空间聚类鉴定出候选神经发育障碍相关基因。
Am J Hum Genet. 2017 Sep 7;101(3):478-484. doi: 10.1016/j.ajhg.2017.08.004. Epub 2017 Aug 31.
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Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.父亲年龄对精子中FOXK1和KCNA7甲基化的影响及其向下一代的传递。
Hum Mol Genet. 2016 Nov 15;25(22):4996-5005. doi: 10.1093/hmg/ddw328.
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Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.父亲高龄对神经发育障碍的影响——潜在机制综述
Transl Psychiatry. 2017 Jan 31;7(1):e1019. doi: 10.1038/tp.2016.294.
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New insights into the generation and role of de novo mutations in health and disease.关于新生突变在健康与疾病中的产生及其作用的新见解。
Genome Biol. 2016 Nov 28;17(1):241. doi: 10.1186/s13059-016-1110-1.
Nat Rev Genet. 2010 Jun;11(6):415-25. doi: 10.1038/nrg2779.
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Analysis of genetic inheritance in a family quartet by whole-genome sequencing.全基因组测序分析一家四口的遗传情况。
Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.
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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.FGFR3和HRAS中的激活突变揭示了先天性疾病和睾丸肿瘤的共同遗传起源。
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