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Titolo:
GENETIC-VARIATION AT A SPLICING BRANCH POINT IN INTRON-9 OF THE LOW-DENSITY-LIPOPROTEIN (LDL)-RECEPTOR GENE - A RARE MUTATION THAT DISRUPTSMESSENGER-RNA SPLICING IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA AND A COMMON POLYMORPHISM
Autore:
WEBB JC; PATEL DD; SHOULDERS CC; KNIGHT BL; SOUTAR AK;
Indirizzi:
HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC,CLIN SCI CTR,LIPOPROT TEAM,DU CANE RD LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC,CLIN SCI CTR,LIPOPROT TEAM LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,CTR CLIN SCI,MOL MED GRP LONDON W12 0NN ENGLAND
Titolo Testata:
Human molecular genetics
fascicolo: 9, volume: 5, anno: 1996,
pagine: 1325 - 1331
SICI:
0964-6906(1996)5:9<1325:GAASBP>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
LDL-RECEPTOR GENE; PRE-MESSENGER-RNA; HAPLOTYPE ANALYSIS; SITE; IDENTIFICATION; PHENOTYPE; PROTEIN; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
J.C. Webb et al., "GENETIC-VARIATION AT A SPLICING BRANCH POINT IN INTRON-9 OF THE LOW-DENSITY-LIPOPROTEIN (LDL)-RECEPTOR GENE - A RARE MUTATION THAT DISRUPTSMESSENGER-RNA SPLICING IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA AND A COMMON POLYMORPHISM", Human molecular genetics, 5(9), 1996, pp. 1325-1331

Abstract

Mutations in the coding sequence, splice junctions or promoter of thegene for the low density lipoprotein (LDL) receptor are known to be the underlying cause of familial hypercholesterolaemia (FH), but mutations of this type cannot be identified in all patients with a clinical diagnosis of FH, We show here that minor sequence changes elsewhere inintrons can be deleterious, A minor rearrangement 30 bp upstream fromthe junction of intron 9 with exon 10 was detected as a heteroduplex in amplified genomic DNA from one out of 300 heterozygous FH patients,The mutation destroys the only consensus sequence for a splicing branch point in intron 9 and analysis of mRNA from cells from the patient showed that it causes retention of intron 9 or, more rarely, in the use of cryptic splice sites in exon 10. The effect of the mutation on mRNA splicing was confirmed by analysis of mRNA in cells transfected with LDL-receptor mini-gene constructs expressing exons 9 and 10, together with the normal or mutant intron 9. A common C/T polymorphism withinthis branch point in intron 9 of the LDL-receptor gene does not affect mRNA splicing in vitro and is not associated with significant differences in mean plasma cholesterol concentration in a healthy population.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/10/20 alle ore 12:02:49