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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1994-5-5
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pubmed:databankReference |
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pubmed:abstractText |
The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysosomal lipid storage disorder. The genomic locus consists of 10 exons spread over 36 kb. The 5' flanking region is G+C-rich and has characteristics of a "housekeeping" gene promoter. One of the identified mutations involves the insertion of a T residue after position 634, resulting in the appearance of an in-frame translation stop signal 13 codons downstream. The second mutation is a T-to-C transition at nucleotide 638. This results in a leucine-to-proline substitution at amino acid 179 and is predicted to lead to the disruption of the alpha-helical structure in a highly conserved region of the protein. These mutations are each capable of completely disrupting the catalytic function of the lysosomal acid cholesteryl ester hydrolase; their presence can account for the extreme phenotype of the lysosomal lipid storage disorder manifested in members of this patient's family.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-10546,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-1718995,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-179993,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-1817024,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-1989675,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-2263458,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-2423876,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-2957647,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3304425,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3470738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3565483,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-364941,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3684611,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3778571,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3839077,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-3945313,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-4066668,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-4117703,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-5468779,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-6097111,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-7219070,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-7687524,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8146180-8419322
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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 |
Mar
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pubmed:issn |
0027-8424
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
29
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pubmed:volume |
91
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2718-22
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:8146180-Amino Acid Sequence,
pubmed-meshheading:8146180-Base Sequence,
pubmed-meshheading:8146180-Exons,
pubmed-meshheading:8146180-Fetus,
pubmed-meshheading:8146180-Genes,
pubmed-meshheading:8146180-Genome, Human,
pubmed-meshheading:8146180-Genomic Library,
pubmed-meshheading:8146180-Humans,
pubmed-meshheading:8146180-Lysosomes,
pubmed-meshheading:8146180-Male,
pubmed-meshheading:8146180-Molecular Sequence Data,
pubmed-meshheading:8146180-Mutation,
pubmed-meshheading:8146180-Phenotype,
pubmed-meshheading:8146180-Polymerase Chain Reaction,
pubmed-meshheading:8146180-Sequence Analysis, DNA,
pubmed-meshheading:8146180-Sterol Esterase,
pubmed-meshheading:8146180-Transcription, Genetic,
pubmed-meshheading:8146180-Wolman Disease
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pubmed:year |
1994
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pubmed:articleTitle |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
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pubmed:affiliation |
Department of Internal Medicine, Wake Forest University Medical Center, Winston-Salem, NC 27157.
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pubmed:publicationType |
Journal Article
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