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Titolo:
A DE-NOVO G-]A MUTATION AT THE ALPHA-2(I) EXON 16 SPLICE DONOR SITE CAUSES SKIPPING OF EXON 16 IN THE CDNA OF ONE ALLELE OF AN OI TYPE-IV PROBAND(1)
Autore:
FILIE JD; ORRISON BM; WANG Q; LEWIS MB; MARINI JC;
Indirizzi:
NICHHD,HUMAN GENET BRANCH,CONNECT TISSUE DISORDERS SECT BETHESDA MD 20892 NICHHD,HUMAN GENET BRANCH,CONNECT TISSUE DISORDERS SECT BETHESDA MD 20892
Titolo Testata:
Human mutation
fascicolo: 5, volume: 2, anno: 1993,
pagine: 380 - 388
SICI:
1059-7794(1993)2:5<380:ADGMAT>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
ATYPICAL OSTEOGENESIS IMPERFECTA; PRO-ALPHA-2(I) GENE; COLLAGEN; RNA; CHAIN; PROCOLLAGEN; DELETION; COL1A2;
Keywords:
OSTEOGENESIS IMPERFECTA; TYPE-I COLLAGEN; SPLICING DEFECTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
J.D. Filie et al., "A DE-NOVO G-]A MUTATION AT THE ALPHA-2(I) EXON 16 SPLICE DONOR SITE CAUSES SKIPPING OF EXON 16 IN THE CDNA OF ONE ALLELE OF AN OI TYPE-IV PROBAND(1)", Human mutation, 2(5), 1993, pp. 380-388

Abstract

We have investigated the procollagen, collagen, alpha2(I) mRNA, and DNA of a proband with type IV OI. The proband synthesized two alpha2(I)chains, one with normal electrophoretic migration and one more rapidly migrating. The fast alpha2(I) chain was relatively retained within the cell and was present in collagens synthesized in the presence of alpha,alpha'-dipyridyl. The alpha2(I) cyanogen bromide peptide CB 4-2 contained both normal and rapidly migrating components. Thermal stability of helices containing the rapidly migrating alpha2(I) chain was reduced 6-degrees-C. Parental fibroblast collagens were normal. RNA/RNA hybrids between proband total RNA and antisense riboprobe complementary to alpha2(I) nt 236-1390 were digested with RNase A and T1. Digestion products seen exclusively in the proband suggested a structural changein the region coding for exons 16-19. The region which hybridized to the riboprobe was amplified using RNA-PCR and subcloned. Multiple restriction enzyme digestions of the two subcloned alleles suggested a structural change localized to the region coding for exons 16-17. Sequencing revealed a deletion of the 54 bp comprising exon 16 in the cDNA ofone allele. The region of the proband's genomic DNA spanning exons 15-17 was amplified by PCR. The subcloned genomic fragments of each allele were distinguished by RNAJDNA hybrid analysis using a riboprobe complementary to normal genomic DNA from this region. Sequencing revealeda G+1-->A mutation at the exon 16 donor site in one allele. The mutation eliminates a Styl site. Digestion of PCR fragments amplified from the proband and parental WBC DNA revealed that only the proband had the undigested mutant fragment. (C) 1993 Wiley-Liss, Inc.dagger

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Documento generato il 02/04/20 alle ore 02:49:48