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Titolo:
3 NOVEL SPLICE MUTATIONS IN THE PCCA GENE CAUSING IDENTICAL EXON SKIPPING IN PROPIONIC ACIDEMIA PATIENTS
Autore:
RICHARD E; DESVIAT LR; PEREZ B; PEREZCERDA C; UGARTE M;
Indirizzi:
UNIV AUTONOMA MADRID,FAC CIENCIAS,CSIC,CTR BIOL MOL SEVERO OCHOA E-28049 MADRID SPAIN UNIV AUTONOMA MADRID,FAC CIENCIAS,CSIC,CTR BIOL MOL SEVERO OCHOA E-28049 MADRID SPAIN
Titolo Testata:
Human genetics
fascicolo: 1, volume: 101, anno: 1997,
pagine: 93 - 96
SICI:
0340-6717(1997)101:1<93:3NSMIT>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
COA CARBOXYLASE; DELETION; FIBROBLASTS; DEFICIENCY; SEQUENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
E. Richard et al., "3 NOVEL SPLICE MUTATIONS IN THE PCCA GENE CAUSING IDENTICAL EXON SKIPPING IN PROPIONIC ACIDEMIA PATIENTS", Human genetics, 101(1), 1997, pp. 93-96

Abstract

Propionyl-CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of branched chain amino acids, odd chain fatty acids, and other metabolites. PCC consists of non-identicalsubunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. Inherited deficiency of PCC due to mutations in either the PCCAor the PCCB gene results in propionic acidemia (PA), a clinically heterogeneous disorder with a severe, often lethal, neonatal form, and a mild, later onset form. To characterize PCCA gene mutations responsible for PCC deficiency, we analyzed RT-PCR products obtained from cultured fibroblasts from Spanish PCC-alpha deficient patients. In three patients, smaller than 'normal PCR products were observed, and sequence analysis revealed the deletion of a 54-bp exon in the cDNA. Sequencing of genomic DNA from these three patients led to the identification of three novel mutations in the PCCA gene, two short deletions and one small insertion, adjacent to short direct repeats, and all of them affecting the consensus splice sites of the skipped exon. These mutations, 1771IVS-2de19, 1824IVS+3de14, and 1824IVS+3insCT, are the cause of theaberrant splicing of the PCCA pre-mRNA and result in an in-frame deletion of 54 nucleotides in the cDNA, probably leading to an unstable protein structure which is responsible for the lack of activity leading to PCC deficiency in these patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 01:31:16