Linked Life Data

8514861

Source:http://linkedlifedata.com/resource/pubmed/id/8514861

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-7-21
pubmed:abstractText
The sterol 27-hydroxylase (EC 1.14.13.15) catalyzes steps in the oxidation of sterol intermediates that form bile acids. Mutations in this gene give rise to the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). CTX is characterized by tendon xanthomas, cataracts, a multitude of neurological manifestations, and premature atherosclerosis. A relatively high prevalence of the disease has been noted in Jews originating from Morocco. The major objectives of the present investigation were to determine the gene structure and characterize the common mutant alleles that cause CTX in Moroccan Jews. The gene contains nine exons and eight introns and encompasses at least 18.6 kb of DNA. The putative promoter region is rich in guanidine and cytosine residues and contains potential binding sites for the transcription factor Sp1 and the liver transcription factor, LF-B1. Blotting analysis revealed that the mutant alleles do not produce any detectable sterol 27-hydroxylase mRNA. No major gene rearrangements were found and single-strand conformational polymorphism followed by sequence analysis identified two underlying mutations: deletion of thymidine in exon 4 and a guanosine to adenosine substitution at the 3' splice acceptor site of intron 4 of the gene. The molecular characterization of CTX in Jews of Moroccan origin provides a definitive diagnosis of this treatable disease.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1107453, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1322637, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-13850739, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-14278459, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-14731805, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1634609, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1708392, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1729888, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1817043, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1908036, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1934506, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-1991046, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2019602, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2022736, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2063865, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2175615, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2318307, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2448875, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2506177, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2563635, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2569482, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2592361, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2667136, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2687159, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-271968, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2722778, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2779551, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2844144, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-2848026, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-3020025, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-3072575, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-3223491, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-3685247, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-3745434, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-3821507, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-4337382, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-5134895, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-518835, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-5676919, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-6326095, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-6423637, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-6457059, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-6504105, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-7063411, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-7315872, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-73185, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-7410549, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-762246, http://linkedlifedata.com/resource/pubmed/commentcorrection/8514861-8446051
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0021-9738
pubmed:author
pubmed:issnType
Print
pubmed:volume
91
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2488-96
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
More...