Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.
Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.
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DOI：
10.3389/fgene.2011.00090
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发表时间：
2011
影响因子：
3.7
通讯作者：
Perls TT
中科院分区：
文献类型：
--
作者：
Sebastiani P;Riva A;Montano M;Pham P;Torkamani A;Scherba E;Benson G;Milton JN;Baldwin CT;Andersen S;Schork NJ;Steinberg MH;Perls TT
超百岁老人（年龄110岁以上）通常会延迟或逃避与年龄相关的疾病和残疾，并且这种特殊的生存可能受到遗传易感性的影响，包括常见和罕见的遗传变异。在这份报告中，我们描述了男性和女性超百岁老人的完整基因组序列，年龄都超过114岁。我们表明：（1）这两个个体的DNA序列的序列变异谱在很大程度上与现有的非超百岁老人基因组相当;（2）这两个个体似乎不携带文献中已经报道的大多数已确立的人类长寿使能变异;（3）相对于迄今为止测序的大多数人类基因组，他们具有相当数量的已知疾病相关变异;（4）这些个体拥有的变异中约有1%是新的，可能指向与异常长寿有关的新基因;（5）这两个个体都富含我们通过大规模全基因组关联研究发现的长寿相关变异附近的编码变异。这些分析表明，存在常见和罕见的长寿相关变异，可能会抵消疾病易感变异的影响并延长寿命。对这些和其他罕见的活到极老的个体的基因组进行持续分析，应该可以深入了解在极端衰老期间有助于维持健康的过程。
Supercentenarians (age 110+ years old) generally delay or escape age-related diseases and disability well beyond the age of 100 and this exceptional survival is likely to be influenced by a genetic predisposition that includes both common and rare genetic variants. In this report, we describe the complete genomic sequences of male and female supercentenarians, both age >114 years old. We show that: (1) the sequence variant spectrum of these two individuals’ DNA sequences is largely comparable to existing non-supercentenarian genomes; (2) the two individuals do not appear to carry most of the well-established human longevity enabling variants already reported in the literature; (3) they have a comparable number of known disease-associated variants relative to most human genomes sequenced to-date; (4) approximately 1% of the variants these individuals possess are novel and may point to new genes involved in exceptional longevity; and (5) both individuals are enriched for coding variants near longevity-associated variants that we discovered through a large genome-wide association study. These analyses suggest that there are both common and rare longevity-associated variants that may counter the effects of disease-predisposing variants and extend lifespan. The continued analysis of the genomes of these and other rare individuals who have survived to extremely old ages should provide insight into the processes that contribute to the maintenance of health during extreme aging.
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影响因子：
4.8
作者：
Al-Regaiey, KA;Masternak, MM;Bartke, A
通讯作者：
Bartke, A
DOI：
10.1093/gerona/glr223
发表时间：
2012-04-01
影响因子：
5.1
作者：
Andersen, Stacy L.;Sebastiani, Paola;Perls, Thomas T.
通讯作者：
Perls, Thomas T.
影响因子：
13.1
作者：
Bloss, Cinnamon S.;Pawlikowska, Ludmila;Schork, Nicholas J.
通讯作者：
Schork, Nicholas J.
影响因子：
64.8
作者：
Eriksson, M;Brown, WT;Collins, FS
通讯作者：
Collins, FS
影响因子：
9.9
作者：
Barzilai, N.;Atzmon, G.;Lipton, R. B.
通讯作者：
Lipton, R. B.