Genetic Variation

Publication Title: 
Molecular Biology Reports

Terminalia trees are being over-exploited because of their medicinal and economical importance leading to loss of valuable genetic resources. For sustainable utilization and conservation, assessment of genetic diversity therefore becomes imperative. We report a comprehensive first study on estimation and analysis of genetic variation through Amplified fragment length polymorphism (AFLP), inter simple sequence repeat polymorphism (ISSR) and random amplification of polymorphic DNA (RAPD) across three species of Terminalia.

Author(s): 
Sarwat, Maryam
Das, Sandip
Srivastava, Prem S.
Publication Title: 
European journal of human genetics: EJHG

The 11p15.5 chromosomal region (2.8 Mb) is of particular interest as it encloses five genes (HRAS1, SIRT3, TH, INS and IGF2), the variability of which was found to be associated with life extension by association studies. Mostly important, the above genes are homologous of genes that modulate lifespan in model organisms. We scanned the area in four European sample groups for a total of 1321 centenarians and 1140 younger subjects, who shared with centenarians ethnicity and geographical origin, with a set of 239 SNPs.

Author(s): 
Lescai, Francesco
BlanchÈ, HÈlËne
Nebel, Almut
Beekman, Marian
Sahbatou, Mourad
Flachsbart, Friederike
Slagboom, Eline
Schreiber, Stefan
Sorbi, Sandro
Passarino, Giuseppe
Franceschi, Claudio
Publication Title: 
Experimental Gerontology

The SIR2/Sirt1 gene has been demonstrated as regulating lifespan in many model organisms, including yeast, Caenorhabditis elegans and rodents. These findings render the human homologue, SIRT1, a very plausible candidate as a modifier of human life expectancy. We therefore sought to investigate whether common allelic variation in the SIRT1 gene was associated with human longevity.

Author(s): 
Flachsbart, Friederike
Croucher, Peter J. P.
Nikolaus, Susanna
Hampe, Jochen
Cordes, Christina
Schreiber, Stefan
Nebel, Almut
Publication Title: 
Advances in Gerontology = Uspekhi Gerontologii / Rossi?skai?a Akademii?a Nauk, Gerontologicheskoe Obshchestvo

Aging of organism is a complex process, however it is succeeded to mark out of new evolution-conservative genetic component of longevity and aging. Among the most perspective problems, connecting with this component, there are search of longevity genes in model animals, investigations of mechanisms of environment influence on aging speed (meal quality, light and temperature regimes, irradiation and hypergravity), revealing of aging biomarkers and genes, determined exceptional centenarians in human, and non-genetics methods of aging correction.

Author(s): 
Moskalev, A. A.
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

The human forkhead box O3A gene (FOXO3A) encodes an evolutionarily conserved key regulator of the insulin-IGF1 signaling pathway that is known to influence metabolism and lifespan in model organisms. A recent study described 3 SNPs in the FOXO3A gene that were statistically significantly associated with longevity in a discovery sample of long-lived men of Japanese ancestry [Willcox et al. (2008) Proc Natl Acad Sci USA 105:13987-13992]. However, this finding required replication in an independent population.

Author(s): 
Flachsbart, Friederike
Caliebe, Amke
Kleindorp, Rabea
BlanchÈ, HÈlËne
von Eller-Eberstein, Huberta
Nikolaus, Susanna
Schreiber, Stefan
Nebel, Almut
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

Telomere length in humans is emerging as a biomarker of aging because its shortening is associated with aging-related diseases and early mortality. However, genetic mechanisms responsible for these associations are not known. Here, in a cohort of Ashkenazi Jewish centenarians, their offspring, and offspring-matched controls, we studied the inheritance and maintenance of telomere length and variations in two major genes associated with telomerase enzyme activity, hTERT and hTERC.

Author(s): 
Atzmon, Gil
Cho, Miook
Cawthon, Richard M.
Budagov, Temuri
Katz, Micol
Yang, Xiaoman
Siegel, Glenn
Bergman, Aviv
Huffman, Derek M.
Schechter, Clyde B.
Wright, Woodring E.
Shay, Jerry W.
Barzilai, Nir
Govindaraju, Diddahally R.
Suh, Yousin
Publication Title: 
Aging Cell

The search for longevity-determining genes in human has largely neglected the operation of genetic interactions. We have identified a novel combination of common variants of three genes that has a marked association with human lifespan and healthy aging. Subjects were recruited and stratified according to their genetically inferred ethnic affiliation to account for population structure. Haplotype analysis was performed in three candidate genes, and the haplotype combinations were tested for association with exceptional longevity.

Author(s): 
Jazwinski, S. Michal
Kim, Sangkyu
Dai, Jianliang
Li, Li
Bi, Xiuhua
Jiang, James C.
Arnold, Jonathan
Batzer, Mark A.
Walker, Jerilyn A.
Welsh, David A.
Lefante, Christina M.
Volaufova, Julia
Myers, Leann
Su, L. Joseph
Hausman, Dorothy B.
Miceli, Michael V.
Ravussin, Eric
Poon, Leonard W.
Cherry, Katie E.
Welsch, Michael A.
Georgia Centenarian Study and the Louisiana Healthy Aging Study
Publication Title: 
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences

BACKGROUND: Identification of gene variants that contribute to exceptional survival may provide critical biologic information that informs optimal health across the life span. METHODS: As part of phenotype development efforts for the Long Life Family Study, endophenotypes that represent exceptional survival were identified and heritability estimates were calculated. Principal components (PCs) analysis was carried out using 28 physiologic measurements from five trait domains (cardiovascular, cognition, physical function, pulmonary, and metabolic).

Author(s): 
Matteini, Amy M.
Fallin, M. Daniele
Kammerer, Candace M.
Schupf, Nicole
Yashin, Anatoli I.
Christensen, Kaare
Arbeev, Konstantin G.
Barr, Graham
Mayeux, Richard
Newman, Anne B.
Walston, Jeremy D.
Publication Title: 
Molecular Biology and Evolution

Insertions or deletions (indels) of amino acids residues have been recognized as an important source of genetic and structural divergence between paralogous Bcl-2 family members. However, these signature sequences have not so far been extensively investigated amongst orthologous Bcl-2 family proteins. Bcl2l10 is an antiapoptotic member of the Bcl-2 family that has evolved rapidly throughout the vertebrate lineage and which shows conserved abundant expression in eggs and oocytes.

Author(s): 
Guillemin, Yannis
Cornut-Thibaut, AurÈlie
Gillet, Germain
Penin, FranÁois
Aouacheria, Abdel
Publication Title: 
PloS One

BACKGROUND: Although there is abundant evidence that human longevity is heritable, efforts to map loci responsible for variation in human lifespan have had limited success. METHODOLOGY/PRINCIPAL FINDINGS: We identified individuals from a large multigenerational population database (the Utah Population Database) who exhibited high levels of both familial longevity and individual longevity. This selection identified 325 related "affected individuals", defined as those in the top quartile for both excess longevity (EL?

Author(s): 
Kerber, Richard A.
O'Brien, Elizabeth
Boucher, Kenneth M.
Smith, Ken R.
Cawthon, Richard M.

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