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rdf:type |
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lifeskim:mentions |
umls-concept:C0001721,
umls-concept:C0005270,
umls-concept:C0015295,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0086418,
umls-concept:C0205314,
umls-concept:C0330390,
umls-concept:C0679622,
umls-concept:C0887918,
umls-concept:C1327242,
umls-concept:C1327244,
umls-concept:C1711351
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pubmed:issue |
4
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pubmed:dateCreated |
1992-3-3
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pubmed:databankReference |
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D10516,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D10517,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D10518,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D10519,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D10520,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D12749,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D12750,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D12751,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D12752,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D12753,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D90493,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D90494,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D90495,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D90496,
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D90497
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pubmed:abstractText |
The molecular basis of a dramatically decreased steady state level of beta-hexosaminidase beta subunit mRNA in a patient with juvenile Sandhoff disease was investigated. Nucleotide sequence analysis of the HEXB gene coding for the beta subunit revealed two single base substitutions, one in exon 2 (A to G, a known polymorphism) and the other in exon 11 (C to T). Analysis of the beta subunit mRNA species demonstrated activation of a cryptic splice site in exon 11 as well as skipping of the exon. A transfection assay using a chimeric gene containing intron 10 flanked by cDNA sequences carrying the mutation confirmed that the single base substitution located at position 8 of exon 11 inhibits the selection of the normal 3' splice site. The results demonstrate a new type of exon mutation affecting 3' splice site selection.
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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 |
Feb
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pubmed:issn |
0021-9258
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
5
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pubmed:volume |
267
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pubmed:geneSymbol |
HEXA,
HEXB
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2406-13
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:1531140-Adult,
pubmed-meshheading:1531140-Base Sequence,
pubmed-meshheading:1531140-Blotting, Northern,
pubmed-meshheading:1531140-Blotting, Southern,
pubmed-meshheading:1531140-Cell Line,
pubmed-meshheading:1531140-Chimera,
pubmed-meshheading:1531140-DNA,
pubmed-meshheading:1531140-Exons,
pubmed-meshheading:1531140-Fibroblasts,
pubmed-meshheading:1531140-Hexosaminidase B,
pubmed-meshheading:1531140-Humans,
pubmed-meshheading:1531140-Male,
pubmed-meshheading:1531140-Molecular Sequence Data,
pubmed-meshheading:1531140-Mutation,
pubmed-meshheading:1531140-Polymerase Chain Reaction,
pubmed-meshheading:1531140-RNA, Messenger,
pubmed-meshheading:1531140-RNA Splicing,
pubmed-meshheading:1531140-Sandhoff Disease,
pubmed-meshheading:1531140-Transcription, Genetic,
pubmed-meshheading:1531140-Transfection,
pubmed-meshheading:1531140-beta-N-Acetylhexosaminidases
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pubmed:year |
1992
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pubmed:articleTitle |
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
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pubmed:affiliation |
Department of Neurology, Niigata University, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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