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Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years

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 co...

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Autores principales: Sebastiani, Paola, Riva, Alberto, Montano, Monty, Pham, Phillip, Torkamani, Ali, Scherba, Eugene, Benson, Gary, Milton, Jacqueline N., Baldwin, Clinton T., Andersen, Stacy, Schork, Nicholas J., Steinberg, Martin H., Perls, Thomas T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Research Foundation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3262222/
https://www.ncbi.nlm.nih.gov/pubmed/22303384
http://dx.doi.org/10.3389/fgene.2011.00090
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author Sebastiani, Paola
Riva, Alberto
Montano, Monty
Pham, Phillip
Torkamani, Ali
Scherba, Eugene
Benson, Gary
Milton, Jacqueline N.
Baldwin, Clinton T.
Andersen, Stacy
Schork, Nicholas J.
Steinberg, Martin H.
Perls, Thomas T.
author_facet Sebastiani, Paola
Riva, Alberto
Montano, Monty
Pham, Phillip
Torkamani, Ali
Scherba, Eugene
Benson, Gary
Milton, Jacqueline N.
Baldwin, Clinton T.
Andersen, Stacy
Schork, Nicholas J.
Steinberg, Martin H.
Perls, Thomas T.
author_sort Sebastiani, Paola
collection PubMed
description 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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spelling pubmed-32622222012-02-02 Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years Sebastiani, Paola Riva, Alberto Montano, Monty Pham, Phillip Torkamani, Ali Scherba, Eugene Benson, Gary Milton, Jacqueline N. Baldwin, Clinton T. Andersen, Stacy Schork, Nicholas J. Steinberg, Martin H. Perls, Thomas T. Front Genet Genetics 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. Frontiers Research Foundation 2012-01-03 /pmc/articles/PMC3262222/ /pubmed/22303384 http://dx.doi.org/10.3389/fgene.2011.00090 Text en Copyright © 2012 Sebastiani, Riva, Montano, Pham, Torkamani, Scherba, Benson, Milton, Baldwin, Andersen, Schork, Steinberg and Perls. http://www.frontiersin.org/licenseagreement This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License, which permits non-commercial use, distribution, and reproduction in other forums, provided the original authors and source are credited.
spellingShingle Genetics
Sebastiani, Paola
Riva, Alberto
Montano, Monty
Pham, Phillip
Torkamani, Ali
Scherba, Eugene
Benson, Gary
Milton, Jacqueline N.
Baldwin, Clinton T.
Andersen, Stacy
Schork, Nicholas J.
Steinberg, Martin H.
Perls, Thomas T.
Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
title Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
title_full Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
title_fullStr Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
title_full_unstemmed Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
title_short Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
title_sort whole genome sequences of a male and female supercentenarian, ages greater than 114 years
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3262222/
https://www.ncbi.nlm.nih.gov/pubmed/22303384
http://dx.doi.org/10.3389/fgene.2011.00090
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