Source:http://linkedlifedata.com/resource/pubmed/id/17623803
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
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| pubmed:dateCreated |
2007-10-23
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| pubmed:abstractText |
Neural tube defects (NTDs), the second most common birth defect in humans, are multifactorial with complex genetic and environmental causes, although the genetic factors are almost completely unknown. In mice, >100 single gene mutations cause NTDs; however, the penetrance in many of these single gene mutant lines is highly dependent on the genetic background. We previously reported that a homozygous Cecr2 mutation on a BALB/c background causes exencephaly at a frequency of 74% compared with 0% on an FVB/N background. We now report that a major genetic modifier on chromosome 19, mapped using whole genome linkage analysis, increases the relative risk of exencephaly by 3.74 times in homozygous BALB embryos vs. BALB/FVB heterozygotes. Scanning electron microscopy revealed that the modifier does not affect the location of neural tube closure site 2, a known murine susceptibility factor for exencephaly. Crossing the Sp (Splotch) mutation in the Pax3 gene onto the FVB/N background for two generations indicated that this resistant strain also decreases the penetrance of spina bifida. The chromosome 19 modifier region corresponds to a linkage region on human chromosome 10q25.3 mapped in a whole genome scan of human NTD families. Since the FVB/N genetic background affects susceptibility to both exencephaly and spina bifida, the human homolog of the chromosome 19 modifier locus may be a better candidate for human NTD susceptibility factors than genes that when mutated actually cause NTDs in mice.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/CECR2 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Intercellular Signaling Peptides...,
http://linkedlifedata.com/resource/pubmed/chemical/Microfilament Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Paired Box Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/Pax3 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Shrm protein, mouse
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| pubmed:status |
MEDLINE
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| pubmed:month |
Oct
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| pubmed:issn |
1531-2267
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| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:day |
22
|
| pubmed:volume |
31
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
244-51
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| pubmed:meshHeading |
pubmed-meshheading:17623803-Animals,
pubmed-meshheading:17623803-Chromosome Mapping,
pubmed-meshheading:17623803-Chromosomes, Human, Pair 10,
pubmed-meshheading:17623803-Crosses, Genetic,
pubmed-meshheading:17623803-Epistasis, Genetic,
pubmed-meshheading:17623803-Female,
pubmed-meshheading:17623803-Genetic Predisposition to Disease,
pubmed-meshheading:17623803-Humans,
pubmed-meshheading:17623803-Intercellular Signaling Peptides and Proteins,
pubmed-meshheading:17623803-Lod Score,
pubmed-meshheading:17623803-Male,
pubmed-meshheading:17623803-Mice,
pubmed-meshheading:17623803-Mice, Inbred BALB C,
pubmed-meshheading:17623803-Mice, Mutant Strains,
pubmed-meshheading:17623803-Microfilament Proteins,
pubmed-meshheading:17623803-Neural Tube Defects,
pubmed-meshheading:17623803-Paired Box Transcription Factors,
pubmed-meshheading:17623803-Penetrance,
pubmed-meshheading:17623803-Quantitative Trait Loci,
pubmed-meshheading:17623803-Species Specificity
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| pubmed:year |
2007
|
| pubmed:articleTitle |
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.
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| pubmed:affiliation |
Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.
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| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|