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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2003-5-1
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pubmed:abstractText |
Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked dosage-sensitive genes. Smith-Magenis syndrome (SMS) is a CGS associated with a deletion within band p11.2 of chromosome 17. Recently, patients harboring the predicted reciprocal duplication product [dup(17)(p11.2p11.2)] have been described as having a relatively mild phenotype. By chromosomal engineering, we created rearranged chromosomes carrying the deletion [Df(11)17] or duplication [Dp(11)17] of the syntenic region on mouse chromosome 11 that spans the genomic interval commonly deleted in SMS patients. Df(11)17/+ mice exhibit craniofacial abnormalities, seizures, marked obesity, and male-specific reduced fertility. Dp(11)17/+ animals are underweight and do not have seizures, craniofacial abnormalities, or reduced fertility. Examination of Df(11)17/Dp(11)17 animals suggests that most of the observed phenotypes result from gene dosage effects. Our murine models represent a powerful tool to analyze the consequences of gene dosage imbalance in this genomic interval and to investigate the molecular genetic bases of both SMS and dup(17)(p11.2p11.2).
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-10325425,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-10353786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-10517636,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-10615134,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11239417,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11242049,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11242110,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11377795,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11429549,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11818139,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11971982,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11997338,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-11997339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-12142364,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-12180145,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-1448148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-1746552,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-2425619,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-572084,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-7501018,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-8083233,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-8231891,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-8882782,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9326934,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9329978,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9448276,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9603735,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9615224,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9799267,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12724422-9820031
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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:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0270-7306
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3646-55
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:12724422-Animals,
pubmed-meshheading:12724422-Chromosomes,
pubmed-meshheading:12724422-Chromosomes, Human, Pair 17,
pubmed-meshheading:12724422-Disease Models, Animal,
pubmed-meshheading:12724422-Electrophysiology,
pubmed-meshheading:12724422-Gene Deletion,
pubmed-meshheading:12724422-Gene Dosage,
pubmed-meshheading:12724422-Gene Duplication,
pubmed-meshheading:12724422-Gene Transfer Techniques,
pubmed-meshheading:12724422-Genetic Vectors,
pubmed-meshheading:12724422-Genotype,
pubmed-meshheading:12724422-Humans,
pubmed-meshheading:12724422-Mice,
pubmed-meshheading:12724422-Mice, Inbred C57BL,
pubmed-meshheading:12724422-Models, Genetic,
pubmed-meshheading:12724422-Organ Size,
pubmed-meshheading:12724422-Phenotype,
pubmed-meshheading:12724422-Syndrome,
pubmed-meshheading:12724422-Time Factors
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pubmed:year |
2003
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pubmed:articleTitle |
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.
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pubmed:affiliation |
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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