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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
14
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pubmed:dateCreated |
1997-8-5
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pubmed:abstractText |
Niemann-Pick disease type C (NP-C) is an autosomal recessive lipidosis linked to chromosome 18q11-12, characterized by lysosomal accumulation of unesterified cholesterol and delayed induction of cholesterol-mediated homeostatic responses. This cellular phenotype is identifiable cytologically by filipin staining and biochemically by measurement of low-density lipoprotein-derived cholesterol esterification. The mutant Chinese hamster ovary cell line (CT60), which displays the NP-C cellular phenotype, was used as the recipient for a complementation assay after somatic cell fusions with normal and NP-C murine cells suggested that this Chinese hamster ovary cell line carries an alteration(s) in the hamster homolog(s) of NP-C. To narrow rapidly the candidate interval for NP-C, three overlapping yeast artificial chromosomes (YACs) spanning the 1 centimorgan human NP-C interval were introduced stably into CT60 cells and analyzed for correction of the cellular phenotype. Only YAC 911D5 complemented the NP-C phenotype, as evidenced by cytological and biochemical analyses, whereas no complementation was obtained from the other two YACs within the interval or from a YAC derived from chromosome 7. Fluorescent in situ hybridization indicated that YAC 911D5 was integrated at a single site per CT60 genome. These data substantially narrow the NP-C critical interval and should greatly simplify the identification of the gene responsible in mouse and man. This is the first demonstration of YAC complementation as a valuable adjunct strategy for positional cloning of a human gene.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-1394466,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-14907713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-1679325,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-1879698,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-2037299,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-2062869,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-2404988,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-2843431,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-2843742,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-3028842,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-3034733,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-3609608,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-3782142,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-3865225,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-6325448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-6765731,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-6820448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-6986448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-7202025,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-8074893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-8312368,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-8446622,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-8650191,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9207099-9002671
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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 |
Jul
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pubmed:issn |
0027-8424
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pubmed:author |
pubmed-author:CarsteaE DED,
pubmed-author:ColemanK GKG,
pubmed-author:ComlyM EME,
pubmed-author:CooneyA MAM,
pubmed-author:CummingsCC,
pubmed-author:FandinoLL,
pubmed-author:LoftusS KSK,
pubmed-author:MorrisJ AJA,
pubmed-author:PavanW JWJ,
pubmed-author:PentchevP GPG,
pubmed-author:RoesUU,
pubmed-author:RosenfeldM AMA,
pubmed-author:TagleD ADA,
pubmed-author:WuJ JJJ,
pubmed-author:ZhangDD
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pubmed:issnType |
Print
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pubmed:day |
8
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
7378-83
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9207099-Animals,
pubmed-meshheading:9207099-CHO Cells,
pubmed-meshheading:9207099-Chromosome Mapping,
pubmed-meshheading:9207099-Chromosomes, Artificial, Yeast,
pubmed-meshheading:9207099-Chromosomes, Human, Pair 18,
pubmed-meshheading:9207099-Chromosomes, Human, Pair 7,
pubmed-meshheading:9207099-Cloning, Molecular,
pubmed-meshheading:9207099-Cricetinae,
pubmed-meshheading:9207099-DNA, Complementary,
pubmed-meshheading:9207099-Humans,
pubmed-meshheading:9207099-Mice,
pubmed-meshheading:9207099-Niemann-Pick Diseases
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pubmed:year |
1997
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pubmed:articleTitle |
Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation.
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pubmed:affiliation |
Laboratory of Gene Transfer, National Institutes of Health, Bethesda, MD 20892, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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