Literature DB >> 20164840

Genome destabilization by homologous recombination in the germ line.

Mariko Sasaki1, Julian Lange, Scott Keeney.   

Abstract

Meiotic recombination, which promotes proper homologous chromosome segregation at the first meiotic division, normally occurs between allelic sequences on homologues. However, recombination can also take place between non-allelic DNA segments that share high sequence identity. Such non-allelic homologous recombination (NAHR) can markedly alter genome architecture during gametogenesis by generating chromosomal rearrangements. Indeed, NAHR-mediated deletions, duplications, inversions and other alterations have been implicated in numerous human genetic disorders. Studies in yeast have provided insights into the molecular mechanisms of meiotic NAHR as well as the cellular strategies that limit it.

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Year:  2010        PMID: 20164840      PMCID: PMC3073813          DOI: 10.1038/nrm2849

Source DB:  PubMed          Journal:  Nat Rev Mol Cell Biol        ISSN: 1471-0072            Impact factor:   94.444


  151 in total

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

2.  Allelic and ectopic recombination between Ty elements in yeast.

Authors:  M Kupiec; T D Petes
Journal:  Genetics       Date:  1988-07       Impact factor: 4.562

3.  The mouse Spo11 gene is required for meiotic chromosome synapsis.

Authors:  P J Romanienko; R D Camerini-Otero
Journal:  Mol Cell       Date:  2000-11       Impact factor: 17.970

4.  Molecular genetics of inherited variation in human color vision.

Authors:  J Nathans; T P Piantanida; R L Eddy; T B Shows; D S Hogness
Journal:  Science       Date:  1986-04-11       Impact factor: 47.728

5.  Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.

Authors:  Sjoerd Repping; Helen Skaletsky; Julian Lange; Sherman Silber; Fulco Van Der Veen; Robert D Oates; David C Page; Steve Rozen
Journal:  Am J Hum Genet       Date:  2002-09-20       Impact factor: 11.025

6.  The yeast Red1 protein localizes to the cores of meiotic chromosomes.

Authors:  A V Smith; G S Roeder
Journal:  J Cell Biol       Date:  1997-03-10       Impact factor: 10.539

7.  Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.

Authors:  S L Karsten; K Lagerstedt; B M Carlberg; W J Kleijer; J Zaremba; O P Van Diggelen; B Czartoryska; U Pettersson; M L Bondeson
Journal:  Genomics       Date:  1997-07-15       Impact factor: 5.736

8.  Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

Authors:  R Carrozzo; E Rossi; S L Christian; K Kittikamron; C Livieri; A Corrias; L Pucci; A Fois; P Simi; L Bosio; L Beccaria; O Zuffardi; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

9.  Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Authors:  P C White; A Vitek; B Dupont; M I New
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

10.  A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.

Authors:  A Zimran; J Sorge; E Gross; M Kubitz; C West; E Beutler
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

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  106 in total

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Journal:  Cell Mol Life Sci       Date:  2010-09-19       Impact factor: 9.261

Review 3.  Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences.

Authors:  Ram-Shankar Mani; Arul M Chinnaiyan
Journal:  Nat Rev Genet       Date:  2010-11-03       Impact factor: 53.242

Review 4.  Regulation of recombination and genomic maintenance.

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Journal:  Cold Spring Harb Perspect Biol       Date:  2015-08-03       Impact factor: 10.005

Review 5.  The impressionistic landscape of meiotic recombination.

Authors:  Michael Lichten; Bernard de Massy
Journal:  Cell       Date:  2011-10-14       Impact factor: 41.582

6.  Ohnologs are overrepresented in pathogenic copy number mutations.

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7.  The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

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Journal:  Am J Hum Genet       Date:  2014-07-24       Impact factor: 11.025

8.  Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.

Authors:  Fatma Mujgan Sonmez; Eyyup Uctepe; Dilek Aktas; Mehmet Alikasifoglu
Journal:  Intractable Rare Dis Res       Date:  2017-02

Review 9.  Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.

Authors:  Timothy P Rutkowski; Jason P Schroeder; Georgette M Gafford; Stephen T Warren; David Weinshenker; Tamara Caspary; Jennifer G Mulle
Journal:  J Neurosci Res       Date:  2016-11-08       Impact factor: 4.164

10.  Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family.

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Journal:  Breast Cancer Res Treat       Date:  2016-10-18       Impact factor: 4.872

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