Literature DB >> 18378036

The functional impact of structural variation in humans.

Matthew E Hurles1, Emmanouil T Dermitzakis, Chris Tyler-Smith.   

Abstract

Structural variation includes many different types of chromosomal rearrangement and encompasses millions of bases in every human genome. Over the past 3 years, the extent and complexity of structural variation has become better appreciated. Diverse approaches have been adopted to explore the functional impact of this class of variation. As disparate indications of the important biological consequences of genome dynamism are accumulating rapidly, we review the evidence that structural variation has an appreciable impact on cellular phenotypes, disease and human evolution.

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Year:  2008        PMID： 18378036      PMCID： PMC2869026          DOI： 10.1016/j.tig.2008.03.001

Source DB:  PubMed          Journal:  Trends Genet        ISSN： 0168-9525            Impact factor:   11.639


  74 in total

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Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

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.  Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

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Journal:  Ann Neurol       Date:  2006-02       Impact factor: 10.422

Review 4.  Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens.

Authors:  J Hardy; A Pittman; A Myers; K Gwinn-Hardy; H C Fung; R de Silva; M Hutton; J Duckworth
Journal:  Biochem Soc Trans       Date:  2005-08       Impact factor: 5.407

Review 5.  Positive natural selection in the human lineage.

Authors:  P C Sabeti; S F Schaffner; B Fry; J Lohmueller; P Varilly; O Shamovsky; A Palma; T S Mikkelsen; D Altshuler; E S Lander
Journal:  Science       Date:  2006-06-16       Impact factor: 47.728

6.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

7.  High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays.

Authors:  D Pinkel; R Segraves; D Sudar; S Clark; I Poole; D Kowbel; C Collins; W L Kuo; C Chen; Y Zhai; S H Dairkee; B M Ljung; J W Gray; D G Albertson
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

8.  Psoriasis is associated with increased beta-defensin genomic copy number.

Authors:  Edward J Hollox; Ulrike Huffmeier; Patrick L J M Zeeuwen; Raquel Palla; Jesús Lascorz; Diana Rodijk-Olthuis; Peter C M van de Kerkhof; Heiko Traupe; Gys de Jongh; Martin den Heijer; André Reis; John A L Armour; Joost Schalkwijk
Journal:  Nat Genet       Date:  2007-12-02       Impact factor: 38.330

Review 9.  Long-range control of gene expression: emerging mechanisms and disruption in disease.

Authors:  Dirk A Kleinjan; Veronica van Heyningen
Journal:  Am J Hum Genet       Date:  2004-11-17       Impact factor: 11.025

10.  Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.

Authors:  Timothy J Aitman; Rong Dong; Timothy J Vyse; Penny J Norsworthy; Michelle D Johnson; Jennifer Smith; Jonathan Mangion; Cheri Roberton-Lowe; Amy J Marshall; Enrico Petretto; Matthew D Hodges; Gurjeet Bhangal; Sheetal G Patel; Kelly Sheehan-Rooney; Mark Duda; Paul R Cook; David J Evans; Jan Domin; Jonathan Flint; Joseph J Boyle; Charles D Pusey; H Terence Cook
Journal:  Nature       Date:  2006-02-16       Impact factor: 49.962
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  68 in total

1.  Analysis of Arabidopsis genome-wide variations before and after meiosis and meiotic recombination by resequencing Landsberg erecta and all four products of a single meiosis.

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Journal:  Genome Res       Date:  2011-11-21       Impact factor: 9.043

2.  Ohnologs in the human genome are dosage balanced and frequently associated with disease.

Authors:  Takashi Makino; Aoife McLysaght
Journal:  Proc Natl Acad Sci U S A       Date:  2010-05-03       Impact factor: 11.205

3.  Pervasive gene content variation and copy number variation in maize and its undomesticated progenitor.

Authors:  Ruth A Swanson-Wagner; Steven R Eichten; Sunita Kumari; Peter Tiffin; Joshua C Stein; Doreen Ware; Nathan M Springer
Journal:  Genome Res       Date:  2010-10-29       Impact factor: 9.043

4.  A time-invariant principle of genome evolution.

Authors:  Subhajyoti De; M Madan Babu
Journal:  Proc Natl Acad Sci U S A       Date:  2010-07-06       Impact factor: 11.205

Review 5.  Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.

Authors:  F S Dahdaleh; J C Carr; D Calva; J R Howe
Journal:  Clin Genet       Date:  2011-09-06       Impact factor: 4.438

6.  The impact of genomic neighborhood on the evolution of human and chimpanzee transcriptome.

Authors:  Subhajyoti De; Sarah A Teichmann; M Madan Babu
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Review 7.  Tilting at quixotic trait loci (QTL): an evolutionary perspective on genetic causation.

Authors:  Kenneth M Weiss
Journal:  Genetics       Date:  2008-08       Impact factor: 4.562

Review 8.  Complex human chromosomal and genomic rearrangements.

Authors:  Feng Zhang; Claudia M B Carvalho; James R Lupski
Journal:  Trends Genet       Date:  2009-06-25       Impact factor: 11.639

9.  Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history.

Authors:  Philip M Kim; Hugo Y K Lam; Alexander E Urban; Jan O Korbel; Jason Affourtit; Fabian Grubert; Xueying Chen; Sherman Weissman; Michael Snyder; Mark B Gerstein
Journal:  Genome Res       Date:  2008-10-08       Impact factor: 9.043

10.  Current status and the future for the genetics of type I diabetes.

Authors:  S S Rich; B Akolkar; P Concannon; H Erlich; J E Hilner; C Julier; G Morahan; J Nerup; C Nierras; F Pociot; J A Todd
Journal:  Genes Immun       Date:  2009-12       Impact factor: 2.676
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