Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
|
| pubmed:dateCreated |
1997-7-10
|
| pubmed:abstractText |
An alpha-spectrin variant with increased susceptibility to tryptic digestion, alpha(II/47), was previously observed in a child with severe, recessively inherited, poikilocytic anemia. The molecular basis of this variant, spectrin St Claude, has now been identified as a splicing mutation of the alpha-spectrin gene due to a T --> G mutation in the 3' acceptor splice site of exon 20. This polypyrimidine tract mutation creates a new acceptor splice site, AT --> AG, and leads to the production of two novel mRNAs. One mRNA contains a 12 intronic nucleotide insertion upstream of exon 20. This insertion introduces a termination codon into the reading frame and is predicted to encode a truncated protein (108 kD) that lacks the nucleation site and thus cannot be assembled in the membrane. In the other mRNA, there is in-frame skipping of exon 20, predicting a truncated (277 kD) alpha-spectrin chain. The homozygous propositus has only truncated 277 kD alpha-spectrin chains in his erythrocyte membranes. His heterozygous parents are clinically and biochemically normal. This allele was identified in 3% of asymptomatic individuals from Benin, Africa.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0006-4971
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
89
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
4584-90
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:9192783-Adult,
pubmed-meshheading:9192783-African Continental Ancestry Group,
pubmed-meshheading:9192783-Alleles,
pubmed-meshheading:9192783-Anemia, Hemolytic, Congenital,
pubmed-meshheading:9192783-Benin,
pubmed-meshheading:9192783-DNA, Complementary,
pubmed-meshheading:9192783-Erythrocytes, Abnormal,
pubmed-meshheading:9192783-Exons,
pubmed-meshheading:9192783-France,
pubmed-meshheading:9192783-Gene Frequency,
pubmed-meshheading:9192783-Genotype,
pubmed-meshheading:9192783-Guadeloupe,
pubmed-meshheading:9192783-Humans,
pubmed-meshheading:9192783-Infant, Newborn,
pubmed-meshheading:9192783-Male,
pubmed-meshheading:9192783-Mutagenesis, Insertional,
pubmed-meshheading:9192783-Mutation,
pubmed-meshheading:9192783-Open Reading Frames,
pubmed-meshheading:9192783-RNA, Messenger,
pubmed-meshheading:9192783-RNA Splicing,
pubmed-meshheading:9192783-Spectrin
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.
|
| pubmed:affiliation |
INSERM U409, Faculté de Médecine Xavier Bichat, Paris, France.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|