Literature DB >> 27094753

Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins.

Kristina Magaard Koldby1,2, Marianne Nygaard1,2, Kaare Christensen1,2,3, Lene Christiansen1.   

Abstract

Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic twin pairs. Furthermore, the presence of mosaic structural variants was explored. We identified four mosaic acquired uniparental disomy events on chromosome 4q and 14q in the follow-up samples from four individuals, and our study thereby supports the increasing prevalence of somatic mosaic variants with age.

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Mesh：

Year:  2016        PMID： 27094753      PMCID： PMC5027681          DOI： 10.1038/ejhg.2016.34

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  20 in total

1.  Age-related somatic structural changes in the nuclear genome of human blood cells.

Authors:  Lars A Forsberg; Chiara Rasi; Hamid R Razzaghian; Geeta Pakalapati; Lindsay Waite; Krista Stanton Thilbeault; Anna Ronowicz; Nathan E Wineinger; Hemant K Tiwari; Dorret Boomsma; Maxwell P Westerman; Jennifer R Harris; Robert Lyle; Magnus Essand; Fredrik Eriksson; Themistocles L Assimes; Carlos Iribarren; Eric Strachan; Terrance P O'Hanlon; Lisa G Rider; Frederick W Miller; Vilmantas Giedraitis; Lars Lannfelt; Martin Ingelsson; Arkadiusz Piotrowski; Nancy L Pedersen; Devin Absher; Jan P Dumanski
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

Review 2.  Structural variation in the human genome.

Authors:  Lars Feuk; Andrew R Carson; Stephen W Scherer
Journal:  Nat Rev Genet       Date:  2006-02       Impact factor: 53.242

3.  PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.

Authors:  Kai Wang; Mingyao Li; Dexter Hadley; Rui Liu; Joseph Glessner; Struan F A Grant; Hakon Hakonarson; Maja Bucan
Journal:  Genome Res       Date:  2007-10-05       Impact factor: 9.043

4.  Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.

Authors:  Allan F McRae; Peter M Visscher; Grant W Montgomery; Nicholas G Martin
Journal:  Twin Res Hum Genet       Date:  2015-01-12       Impact factor: 1.587

5.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

Review 6.  Genome instability and aging.

Authors:  Jan Vijg; Yousin Suh
Journal:  Annu Rev Physiol       Date:  2013       Impact factor: 19.318

Review 7.  Somatic mosaicism: implications for disease and transmission genetics.

Authors:  Ian M Campbell; Chad A Shaw; Pawel Stankiewicz; James R Lupski
Journal:  Trends Genet       Date:  2015-04-21       Impact factor: 11.639

8.  Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Authors:  Laura K Conlin; Brian D Thiel; Carsten G Bonnemann; Livija Medne; Linda M Ernst; Elaine H Zackai; Matthew A Deardorff; Ian D Krantz; Hakon Hakonarson; Nancy B Spinner
Journal:  Hum Mol Genet       Date:  2010-01-06       Impact factor: 6.150

9.  Characterization of large structural genetic mosaicism in human autosomes.

Authors:  Mitchell J Machiela; Weiyin Zhou; Joshua N Sampson; Michael C Dean; Kevin B Jacobs; Amanda Black; Louise A Brinton; I-Shou Chang; Chu Chen; Constance Chen; Kexin Chen; Linda S Cook; Marta Crous Bou; Immaculata De Vivo; Jennifer Doherty; Christine M Friedenreich; Mia M Gaudet; Christopher A Haiman; Susan E Hankinson; Patricia Hartge; Brian E Henderson; Yun-Chul Hong; H Dean Hosgood; Chao A Hsiung; Wei Hu; David J Hunter; Lea Jessop; Hee Nam Kim; Yeul Hong Kim; Young Tae Kim; Robert Klein; Peter Kraft; Qing Lan; Dongxin Lin; Jianjun Liu; Loic Le Marchand; Xiaolin Liang; Jolanta Lissowska; Lingeng Lu; Anthony M Magliocco; Keitaro Matsuo; Sara H Olson; Irene Orlow; Jae Yong Park; Loreall Pooler; Jennifer Prescott; Radhai Rastogi; Harvey A Risch; Fredrick Schumacher; Adeline Seow; Veronica Wendy Setiawan; Hongbing Shen; Xin Sheng; Min-Ho Shin; Xiao-Ou Shu; David VanDen Berg; Jiu-Cun Wang; Nicolas Wentzensen; Maria Pik Wong; Chen Wu; Tangchun Wu; Yi-Long Wu; Lucy Xia; Hannah P Yang; Pan-Chyr Yang; Wei Zheng; Baosen Zhou; Christian C Abnet; Demetrius Albanes; Melinda C Aldrich; Christopher Amos; Laufey T Amundadottir; Sonja I Berndt; William J Blot; Cathryn H Bock; Paige M Bracci; Laurie Burdett; Julie E Buring; Mary A Butler; Tania Carreón; Nilanjan Chatterjee; Charles C Chung; Michael B Cook; Michael Cullen; Faith G Davis; Ti Ding; Eric J Duell; Caroline G Epstein; Jin-Hu Fan; Jonine D Figueroa; Joseph F Fraumeni; Neal D Freedman; Charles S Fuchs; Yu-Tang Gao; Susan M Gapstur; Ana Patiño-Garcia; Montserrat Garcia-Closas; J Michael Gaziano; Graham G Giles; Elizabeth M Gillanders; Edward L Giovannucci; Lynn Goldin; Alisa M Goldstein; Mark H Greene; Goran Hallmans; Curtis C Harris; Roger Henriksson; Elizabeth A Holly; Robert N Hoover; Nan Hu; Amy Hutchinson; Mazda Jenab; Christoffer Johansen; Kay-Tee Khaw; Woon-Puay Koh; Laurence N Kolonel; Charles Kooperberg; Vittorio Krogh; Robert C Kurtz; Andrea LaCroix; Annelie Landgren; Maria Teresa Landi; Donghui Li; Linda M Liao; Nuria Malats; Katherine A McGlynn; Lorna H McNeill; Robert R McWilliams; Beatrice S Melin; Lisa Mirabello; Beata Peplonska; Ulrike Peters; Gloria M Petersen; Ludmila Prokunina-Olsson; Mark Purdue; You-Lin Qiao; Kari G Rabe; Preetha Rajaraman; Francisco X Real; Elio Riboli; Benjamín Rodríguez-Santiago; Nathaniel Rothman; Avima M Ruder; Sharon A Savage; Ann G Schwartz; Kendra L Schwartz; Howard D Sesso; Gianluca Severi; Debra T Silverman; Margaret R Spitz; Victoria L Stevens; Rachael Stolzenberg-Solomon; Daniel Stram; Ze-Zhong Tang; Philip R Taylor; Lauren R Teras; Geoffrey S Tobias; Kala Viswanathan; Sholom Wacholder; Zhaoming Wang; Stephanie J Weinstein; William Wheeler; Emily White; John K Wiencke; Brian M Wolpin; Xifeng Wu; Jay S Wunder; Kai Yu; Krista A Zanetti; Anne Zeleniuch-Jacquotte; Regina G Ziegler; Mariza de Andrade; Kathleen C Barnes; Terri H Beaty; Laura J Bierut; Karl C Desch; Kimberly F Doheny; Bjarke Feenstra; David Ginsburg; John A Heit; Jae H Kang; Cecilia A Laurie; Jun Z Li; William L Lowe; Mary L Marazita; Mads Melbye; Daniel B Mirel; Jeffrey C Murray; Sarah C Nelson; Louis R Pasquale; Kenneth Rice; Janey L Wiggs; Anastasia Wise; Margaret Tucker; Luis A Pérez-Jurado; Cathy C Laurie; Neil E Caporaso; Meredith Yeager; Stephen J Chanock
Journal:  Am J Hum Genet       Date:  2015-03-05       Impact factor: 11.025

10.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Authors:  Stefano Colella; Christopher Yau; Jennifer M Taylor; Ghazala Mirza; Helen Butler; Penny Clouston; Anne S Bassett; Anneke Seller; Christopher C Holmes; Jiannis Ragoussis
Journal:  Nucleic Acids Res       Date:  2007-03-06       Impact factor: 16.971
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  1 in total

1.  The Danish Twin Registry: An Updated Overview.

Authors:  Dorthe Almind Pedersen; Lisbeth Aagaard Larsen; Marianne Nygaard; Jonas Mengel-From; Matt McGue; Christine Dalgård; Lars Hvidberg; Jacob Hjelmborg; Axel Skytthe; Niels V Holm; Kirsten Ohm Kyvik; Kaare Christensen
Journal:  Twin Res Hum Genet       Date:  2019-09-23       Impact factor: 1.587
  1 in total

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