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Titolo:
A survey of trinucleotide/tandem repeat-containing transcripts (TNRTs) isolated from human spinal cord to identify genes containing unstable DNA regions as candidates for disorders of motor function
Autore:
Malaspina, A; Kaushik, N; de Belleroche, J;
Indirizzi:
Univ London Imperial Coll Sci Technol & Med, Sch Med, Div Neurosci & Psychol Med, Dept Neuromuscular Dis, London SW7 2BZ, England Univ London Imperial Coll Sci Technol & Med London England SW7 2BZ gland Univ Pavia, Fdn Casimiro Mondino, I-27100 Pavia, Italy Univ Pavia Pavia Italy I-27100 dn Casimiro Mondino, I-27100 Pavia, Italy
Titolo Testata:
BRAIN RESEARCH BULLETIN
fascicolo: 3-4, volume: 56, anno: 2001,
pagine: 299 - 306
SICI:
0361-9230(200110/11)56:3-4<299:ASOTRT>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMYOTROPHIC-LATERAL-SCLEROSIS; FAMILIAL SPASTIC PARAPARESIS; CAG REPEAT; POLYGLUTAMINE EXPANSION; ANDROGEN RECEPTOR; HUNTINGTONS-DISEASE; MYOCLONUS EPILEPSY; MOLECULAR-CLONING; LOCUS; EXPRESSION;
Keywords:
spinal cord; neurodegenerative disorders; unstable repeats; RRACE; high density arrays;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: de Belleroche, J Univ London Imperial Coll Sci Technol & Med, Fac Med, Dept Neuromuscular Dis, Room 9L22 Lab Block,Charing Cross Campus,St Dunst, London W6 8RF, England Univ London Imperial Coll Sci Technol & Med Room 9L22 Lab Block,Charing Cross Campus,St Dunst London England W6 8RF
Citazione:
A. Malaspina et al., "A survey of trinucleotide/tandem repeat-containing transcripts (TNRTs) isolated from human spinal cord to identify genes containing unstable DNA regions as candidates for disorders of motor function", BRAIN RES B, 56(3-4), 2001, pp. 299-306

Abstract

Expansion of unstable DNA regions containing trinucleotide/tandem repeats (TNRs) represents a common genetic mutation in hereditary forms of neurological disorders. The spectrum of neurological diseases linked to TNR expansions has recently broadened to include conditions with both dominant and recessive inheritance and those with or without clinical anticipation. In viewof the frequent involvement of the spinal cord in neurodegenerative disorders, we have analysed this key tissue to identify pathological TNRs. We have used two approaches to isolate a wide range of trinucleotide/tandem repeat-containing transcripts (TNRTs) from human spinal cord, firstly a polymerase chain reaction (PCR)-based method and secondly by screening a spinal cord cDNA library immobilised on a membrane. Overall, 97 TNRTs belonging to a number of key protein families, the most highly represented being transcription factors, intracellular signalling molecules and cytoskeletal proteins,have been isolated most of which have not previously been considered as potential disease-causing genes. The commonest repeat motifs found in our study were CAG (37%) and CCG (24%). Known genes involved in DNA repeat expansion-related neurological disorders (e.g., AAD10, Ataxin-3, Huntingtin) were detected which validated our methods. We have characterised homogeneous TNRs among the detected gene candidates in a search for potential pathologicalrepeat expansions. The potential role of the gene candidates identified isdiscussed in terms of their contribution to neurodegenerative processes. (C) 2001 Elsevier Science Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 09:42:00