| pubmed-article:19710035 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C0017428 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C1444783 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C0678214 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C0919524 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C0039290 | lld:lifeskim |
| pubmed-article:19710035 | lifeskim:mentions | umls-concept:C1332120 | lld:lifeskim |
| pubmed-article:19710035 | pubmed:issue | 19 | lld:pubmed |
| pubmed-article:19710035 | pubmed:dateCreated | 2009-11-2 | lld:pubmed |
| pubmed-article:19710035 | pubmed:abstractText | Expansion of a tandem repeat tract is responsible for the Repeat Expansion diseases, a group of more than 20 human genetic disorders that includes those like Fragile X (FX) syndrome that result from repeat expansion in the FMR1 gene. We have previously shown that the ATM and Rad3-related (ATR) checkpoint kinase protects the genome against one type of repeat expansion in a FX premutation mouse model. By crossing the FX premutation mice to Ataxia Telangiectasia-Mutated (Atm) mutant mice, we show here that ATM also prevents repeat expansion. However, our data suggest that the ATM-sensitive mechanism is different from the ATR-sensitive one. Specifically, the effect of the ATM deficiency is more marked when the premutation allele is paternally transmitted and expansions occur more frequently in male offspring regardless of the Atm genotype of the offspring. The gender effect is most consistent with a repair event occurring in the early embryo that is more efficient in females, perhaps as a result of the action of an X-linked DNA repair gene. Our data thus support the hypothesis that two different mechanisms of FX repeat expansion exist, an ATR-sensitive mechanism seen on maternal transmission and an ATM-sensitive mechanism that shows a male expansion bias. | lld:pubmed |
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| pubmed-article:19710035 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19710035 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19710035 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19710035 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:19710035 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19710035 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:19710035 | pubmed:issn | 1362-4962 | lld:pubmed |
| pubmed-article:19710035 | pubmed:author | pubmed-author:UsdinKarenK | lld:pubmed |
| pubmed-article:19710035 | pubmed:author | pubmed-author:EntezamAliA | lld:pubmed |
| pubmed-article:19710035 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19710035 | pubmed:volume | 37 | lld:pubmed |
| pubmed-article:19710035 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19710035 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19710035 | pubmed:pagination | 6371-7 | lld:pubmed |
| pubmed-article:19710035 | pubmed:dateRevised | 2011-11-2 | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:meshHeading | pubmed-meshheading:19710035... | lld:pubmed |
| pubmed-article:19710035 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19710035 | pubmed:articleTitle | ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. | lld:pubmed |
| pubmed-article:19710035 | pubmed:affiliation | Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA. | lld:pubmed |
| pubmed-article:19710035 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19710035 | pubmed:publicationType | Research Support, N.I.H., Intramural | lld:pubmed |
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| entrez-gene:245000 | entrezgene:pubmed | pubmed-article:19710035 | lld:entrezgene |
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