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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-4-3
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pubmed:abstractText |
It has been well documented that 22q11 contains one of the most rearrangement-prone sites in the human genome, where the breakpoints of a number of constitutional translocations cluster. This breakage-sensitive region is located within one of the remaining unclonable gaps from the human genome project, suggestive of a specific sequence recalcitrant to cloning. In this study, we cloned a part of this gap and identified a novel 595-bp palindromic AT-rich repeat (PATRR). To date we have identified three translocation-associated PATRRs. They have common characteristics: (1) they are AT-rich nearly perfect palindromes, which are several hundred base pairs in length; (2) they possess non-AT-rich regions at both ends of the PATRR; (3) they display another nearby AT-rich region on one side of the PATRR. All of these features imply a potential for DNA secondary structure. Sequence analysis of unrelated individuals indicates no major size polymorphism, but shows minor nucleotide polymorphisms among individuals and cis-morphisms between the proximal and distal arms. Breakpoint analysis of various translocations indicates that double-strand-breakage (DSB) occurs at the center of the palindrome, often accompanied by a small symmetric deletion at the center. The breakpoints share only a small number of identical nucleotides between partner chromosomes. Taken together, these features imply that the DSBs are repaired through nonhomologous end joining or single-strand annealing rather than a homologous recombination pathway. All of these results support a previously proposed paradigm that unusual DNA secondary structure plays a role in the mechanism by which palindrome-mediated translocations occur.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-10577913,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-10699172,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-10861292,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-10864328,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-11095996,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-11156612,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-11511922,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-12431258,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-12557125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-12874103,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-12952865,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-14613967,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-14656960,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-14999286,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-15143317,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-15208332,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-15840562,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-16116616,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-16484486,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-16909390,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-3779842,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-7840768,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-8661140,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-9039263,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-9048928,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-9465898,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17267815-9660961
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1088-9051
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
461-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17267815-AT Rich Sequence,
pubmed-meshheading:17267815-Animals,
pubmed-meshheading:17267815-Base Sequence,
pubmed-meshheading:17267815-Chromosome Breakage,
pubmed-meshheading:17267815-Chromosomes, Human, Pair 11,
pubmed-meshheading:17267815-Chromosomes, Human, Pair 17,
pubmed-meshheading:17267815-Chromosomes, Human, Pair 22,
pubmed-meshheading:17267815-Cloning, Molecular,
pubmed-meshheading:17267815-Cricetinae,
pubmed-meshheading:17267815-DNA,
pubmed-meshheading:17267815-Humans,
pubmed-meshheading:17267815-Hybrid Cells,
pubmed-meshheading:17267815-Mice,
pubmed-meshheading:17267815-Polymerase Chain Reaction,
pubmed-meshheading:17267815-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:17267815-Sequence Analysis, DNA,
pubmed-meshheading:17267815-Translocation, Genetic
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pubmed:year |
2007
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pubmed:articleTitle |
Molecular cloning of a translocation breakpoint hotspot in 22q11.
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pubmed:affiliation |
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, Japan. kura@fujita-hu.ac.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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