Cargando…
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...
Autores principales: | , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1782221699962372096 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3262222 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Frontiers Research Foundation |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT sebastianipaola wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT rivaalberto wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT montanomonty wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT phamphillip wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT torkamaniali wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT scherbaeugene wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT bensongary wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT miltonjacquelinen wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT baldwinclintont wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT andersenstacy wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT schorknicholasj wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT steinbergmartinh wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years AT perlsthomast wholegenomesequencesofamaleandfemalesupercentenarianagesgreaterthan114years |