New insights into the generation and role of de novo mutations in health and disease.
New insights into the generation and role of de novo mutations in health and disease.
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DOI：
10.1186/s13059-016-1110-1
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发表时间：
2016-11-28
期刊：
影响因子：
12.3
通讯作者：
Hoischen A
中科院分区：
文献类型：
--
作者：
Acuna-Hidalgo R;Veltman JA;Hoischen A
除了继承父母一半的基因组外，我们出生时还带有少量发生在配子发生和合子后的新突变。最近的基因组和外显子组测序研究的父母-后代三人组提供了第一个洞察这些新生突变的数量和分布在健康和疾病，指出风险因素，增加他们的数量在后代。新生突变已被证明是严重的早发性遗传疾病，如智力残疾，自闭症谱系障碍和其他发育疾病的主要原因。事实上，每一代新突变的发生解释了为什么这些生殖致命疾病继续发生在我们的人群中。最近的研究还表明，新生突变主要来自父亲，并且随着父亲年龄的增长，其数量会增加。在这里，我们回顾了最近的文献从头突变，包括他们的检测，生物学特性和医学影响。
Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred during gametogenesis and postzygotically. Recent genome and exome sequencing studies of parent–offspring trios have provided the first insights into the number and distribution of these de novo mutations in health and disease, pointing to risk factors that increase their number in the offspring. De novo mutations have been shown to be a major cause of severe early-onset genetic disorders such as intellectual disability, autism spectrum disorder, and other developmental diseases. In fact, the occurrence of novel mutations in each generation explains why these reproductively lethal disorders continue to occur in our population. Recent studies have also shown that de novo mutations are predominantly of paternal origin and that their number increases with advanced paternal age. Here, we review the recent literature on de novo mutations, covering their detection, biological characterization, and medical impact.
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影响因子：
9.8
作者：
Bersaglieri, T;Sabeti, PC;Hirschhorn, JN
通讯作者：
Hirschhorn, JN
影响因子：
56.9
作者：
Bailey, JA;Gu, ZP;Eichler, EE
通讯作者：
Eichler, EE
DOI：
10.1038/nrg.2015.25
发表时间：
2016-04
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
Carvalho CM;Lupski JR
通讯作者：
Lupski JR
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
6.9
作者：
Baxter, A. J.;Brugha, T. S.;Scott, J. G.
通讯作者：
Scott, J. G.