About: A common sequence motif associated with recombination hot spots and genome instability in humans

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About: A common sequence motif associated with recombination hot spots and genome instability in humans Goto Sponge NotDistinct Permalink

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description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2008 (uk) im August 2008 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q54243556-3FEAA8D2-FC3E-417A-B0B9-1B770B164F64
publication date	2008-08-24 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q54243556-9CA09BEA-D1FB-4A2B-8AC2-D4B763F85C89
language of work or name	English
exact match	wds:Q54243556-05F49BFE-DA50-4B95-9264-D39D2905B7CA
exact match	https://scigraph.springernature.com/pub.10.1038/ng.213
cites work	wds:Q54243556-03E1DDD1-358E-4221-A768-1F3DF705F297 wds:Q54243556-05704DD0-7425-4A53-A132-F952A8BB41EA wds:Q54243556-0F39807E-FDE2-4652-A8BA-500AB1684DE2 wds:Q54243556-117814EB-6019-46A4-B059-2699CC793D6B wds:Q54243556-1190DFD4-BB01-4075-B4AB-2938E147DF7D wds:Q54243556-241406AF-99AF-4E04-835F-20D28EF38736 wds:Q54243556-30F9B88E-83DD-4620-AC3A-31267487E5AE wds:Q54243556-3B1CC2F2-446F-407E-9975-47F1A9721DFA wds:Q54243556-41D91D78-22EB-4AB4-BD0B-07C50302FE58 wds:Q54243556-43BEE02B-9E50-4F9A-B81C-3281F25AF343 wds:Q54243556-547D2FCD-5109-4927-8EFC-05696D750EE9 wds:Q54243556-561F35C3-411F-43AE-A16D-14138A2C9E53 wds:Q54243556-5A0A2C45-F164-4AC3-B22C-DCCE13C12C45 wds:Q54243556-5EC4AA80-0D2E-494E-A2C4-C854AB90E5C7 wds:Q54243556-8D530BC7-49BF-4A21-AD81-E75C66E82120 wds:Q54243556-8DB87CEA-5132-42ED-AFEC-87ACAA54E957 wds:Q54243556-9A30A7F4-F5E1-4724-87D6-27507DE8B87E wds:Q54243556-9B96CDEF-E6D4-4C18-9895-21FE308A3E43 wds:Q54243556-AF3035D0-308C-463B-9DBE-2201013BF279 wds:Q54243556-B171FD6F-D490-45C1-B0BC-725F95D89D09 wds:Q54243556-B4DF6296-D9A1-4D6F-BF13-A2AA63270943 wds:Q54243556-B7DB85DE-34F5-4DF9-9304-6E744D02AB5F wds:Q54243556-C4F4D84E-66B0-4445-8040-A7C16822B5CE wds:Q54243556-CB702241-11BA-4395-A62B-D893E94A7D47 wds:Q54243556-CFCE5775-6E08-459B-8D86-EFB844717EBE wds:Q54243556-D674FE32-CDFA-4156-AB05-9FB3674E16BD wds:Q54243556-E46C5E17-2DE2-4B44-8AB7-769839FF3A8F wds:Q54243556-EB7A66EA-F0E9-4F98-8A86-2ABC8D830F45 wds:Q54243556-EF57D850-0579-4D77-AF08-FEACE750A452
cites work	Minisatellites: mutability and genome architecture. Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. A second generation human haplotype map of over 3.1 million SNPs Human Rad51 protein promotes ATP-dependent homologous pairing and strand transfer reactions in vitro Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex A fine-scale map of recombination rates and hotspots across the human genome Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans Mutational mechanisms of Williams-Beuren syndrome deletions Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion Recombination hotspot in NF1 microdeletion patients Cis- and trans-acting elements regulate the mouse Psmb9 meiotic recombination hotspot High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot. Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation. High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot Repeat instability at human minisatellites arising from meiotic recombination Influences of array size and homogeneity on minisatellite mutation. Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309) Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination Meiotic recombination and flanking marker exchange at the highly unstable human minisatellite CEB1 (D2S90). Extremely complex repeat shuffling during germline mutation at human minisatellite B6.7. Allele diversity and germline mutation at the insulin minisatellite Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion. Complex minisatellite rearrangements generated in the total or partial absence of Rad27/hFEN1 activity occur in a single generation and are Rad51 and Rad52 dependent. De novo mutations and allelic diversity at minisatellite locus D7S22 investigated by allele-specific four-state MVR-PCR analysis
author name string	wds:Q54243556-42113E73-7145-4278-9913-B4DDE333F37E
author name string	Colin Freeman
rdfs:label	A common sequence motif associated with recombination hot spots and genome instability in humans (en) A common sequence motif associated with recombination hot spots and genome instability in humans (nl)
skos:prefLabel	A common sequence motif associated with recombination hot spots and genome instability in humans (en) A common sequence motif associated with recombination hot spots and genome instability in humans (nl)
name	A common sequence motif associated with recombination hot spots and genome instability in humans (en) A common sequence motif associated with recombination hot spots and genome instability in humans (nl)
author	wds:Q54243556-A597B750-414F-4989-9E3D-C2A9B149D626 wds:Q54243556-BA4884FE-2466-420A-9587-26082244E8C8 wds:Q54243556-E36FB32B-0B05-4AD1-9AEB-AF73727080A5 wds:Q54243556-EFEFC5CA-A626-4B21-A4CF-C9523364279F
author	Gilean McVean Peter Donnelly Adam Auton Simon Myers
title	wds:Q54243556-DEFCC76B-C4F1-4FCD-B4D3-C71134E34AAC
title	A common sequence motif associated with recombination hot spots and genome instability in humans (en)
page(s)	wds:Q54243556-CBF7B99C-FBEE-4138-B415-7C647515DB2C
page(s)	1124-1129
instance of	wds:Q54243556-46CA4EA6-4CE3-4049-8985-EF4A6DF7308E
instance of	scholarly article
main subject	wds:Q54243556-5602DCA1-FAE3-4295-84CF-CA22C83FF4D5
main subject	genome stability
PubMed ID	wds:Q54243556-9A9BC0EC-7D20-451D-A905-BF0A4362A64A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/19165926
PubMed ID	19165926
published in	wds:Q54243556-6F18200A-E30B-483E-9ACE-69EF69A0B6C0
published in	Nature Genetics
issue	wds:Q54243556-66E3F661-4F0F-45C5-998D-781266CBB513
volume	wds:Q54243556-3D6C2C72-F861-4A77-A68C-1B693A6B61E8
issue	9

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