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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
2005-12-5
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pubmed:abstractText |
Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia due to abnormalities of the red blood cell (RBC) membrane skeleton. In the original HPP kindred, there is compound heterozygosity for an allele encoding a structural variant of alpha-spectrin (L207P) and an alpha-spectrin allele associated with a defect in alpha-spectrin production. To identify the molecular defect in the production-defective allele, reticulocyte alpha-spectrin cDNA from one of the original HPP patients was analyzed. Transcripts from the production-defective, non-L207P allele demonstrated a pattern of abnormal splicing between exons 22 and 23, resulting in insertion of intronic fragments with an in-frame premature termination codon. A G to A substitution at position +5 of the donor consensus splice site of IVS 22 was identified in the inserts. Following gene transfer into tissue culture cells, there was complete absence of normally spliced alpha-spectrin gene transcripts derived from a minigene containing the IVS 22 +5 mutation.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-10469842,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-11385705,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-11781342,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-1191563,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-12196550,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-1427786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-15026310,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-15071791,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-15384986,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-1541680,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-1672285,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-1689726,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-1845156,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-3654760,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-6863544,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-8068958,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-8364214,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-8486776,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-8941647,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16150946-9067503
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0006-4971
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
106
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4367-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:16150946-Alleles,
pubmed-meshheading:16150946-Anemia, Hemolytic,
pubmed-meshheading:16150946-Animals,
pubmed-meshheading:16150946-COS Cells,
pubmed-meshheading:16150946-Cercopithecus aethiops,
pubmed-meshheading:16150946-Exons,
pubmed-meshheading:16150946-Gene Expression,
pubmed-meshheading:16150946-Heterozygote,
pubmed-meshheading:16150946-Humans,
pubmed-meshheading:16150946-Models, Genetic,
pubmed-meshheading:16150946-Mutation,
pubmed-meshheading:16150946-RNA, Messenger,
pubmed-meshheading:16150946-RNA Splicing,
pubmed-meshheading:16150946-Spectrin
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pubmed:year |
2005
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pubmed:articleTitle |
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
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pubmed:affiliation |
Department of Medicine, Yale University School of Medicine, New Haven, CT, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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