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Titolo:
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder
Autore:
Persico, AM; DAgruma, L; Maiorano, N; Totaro, A; Militerni, R; Bravaccio, C; Wassink, TH; Schneider, C; Melmed, R; Trillo, S; Montecchi, F; Palermo, M; Pascucci, T; Puglisi-Allegra, S; Reichelt, KL; Conciatori, M; Marino, R; Quattrocchi, CC; Baldi, A; Zelante, L; Gasparini, P; Keller, F;
Indirizzi:
Libera Univ, Neurosci Lab, Dept Physiol & Neurosci, I-00155 Rome, Italy Libera Univ Rome Italy I-00155 t Physiol & Neurosci, I-00155 Rome, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Serv, San Giovanni Rotondo, FG, Italy IRCCS Casa Sollievo Sofferenza San Giovanni Rotondo FG Italy , FG, Italy Univ Naples 2, Dept Child Neuropsychiat, Naples, Italy Univ Naples 2 Naples Italy s 2, Dept Child Neuropsychiat, Naples, Italy Univ Iowa, Coll Med, Dept Psychiat, Iowa City, IA USA Univ Iowa Iowa CityIA USA a, Coll Med, Dept Psychiat, Iowa City, IA USA SW Autism Res Ctr, Phoenix, AZ USA SW Autism Res Ctr Phoenix AZ USASW Autism Res Ctr, Phoenix, AZ USA Osped Bambino Gesu, IRCCS, Div Child Neuropsychiat, Rome, Italy Osped Bambino Gesu Rome Italy CCS, Div Child Neuropsychiat, Rome, Italy Libera Univ, Clin Autism & Dev Disabilities, Rome, Italy Libera Univ Rome Italy niv, Clin Autism & Dev Disabilities, Rome, Italy Univ La Sapienza, Dept Psychol, Rome, Italy Univ La Sapienza Rome ItalyUniv La Sapienza, Dept Psychol, Rome, Italy Univ Oslo, Rikshosp, Dept Pediat Res, N-0316 Oslo, Norway Univ Oslo OsloNorway N-0316 shosp, Dept Pediat Res, N-0316 Oslo, Norway
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 2, volume: 6, anno: 2001,
pagine: 150 - 159
SICI:
1359-4184(200103)6:2<150:RGAAHA>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSMISSION/DISEQUILIBRIUM TEST; NEUROANATOMICAL ABNORMALITIES; LINKAGE DISEQUILIBRIUM; CORTICAL-NEURONS; MOUSE; MICE; ORGANIZATION; CEREBELLAR; MUTATION; BRAIN;
Keywords:
allelic association; autism; cranial circumference; haplotype relative risk; linkage disequilibrium; reeler mouse; serotonin; splice junction; transmission/disequilibrium test; trinucleotide repeat;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
66
Recensione:
Indirizzi per estratti:
Indirizzo: Keller, F Libera Univ, Neurosci Lab, Dept Physiol & Neurosci, Campus Bio Med,Via Longoni 83, I-00155 Rome, Italy Libera Univ Campus Bio Med,Via Longoni 83 Rome Italy I-00155 ly
Citazione:
A.M. Persico et al., "Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder", MOL PSYCHI, 6(2), 2001, pp. 150-159

Abstract

Autistic disorder (MIM 209850) is currently viewed as a neurodevelopmentaldisease. Reelin plays a pivotal role in the development of laminar structures Including the cerebral cortex, hippocampus, cerebellum and of several brainstem nuclei. Neuroanatomical evidence is consistent with Reelin involvement in autistic disorder. In this study, we describe several polymorphismsidentified using RNA-SSCP and DNA sequencing. Association and linkage wereassessed comparing 95 Italian patients to 186 ethnically-matched controls,and using the transmission/disequilibrium test and haplotype-based haplotype relative risk In 172 complete trios from 165 families collected in Italyand in the USA. Both case-control and family-based analyses yield a significant association between autistic disorder and a polymorphic GGC repeat located immediately 5' of the reelin gene (RELN) ATG initiator codon, as wellas with specific haplotypes formed by this polymorphism with two single-base substitutions located in a splice junction in exon 6 and within exon 50. Triplet repeats located in 5' untranslated regions (5'UTRs) are indicativeof strong transcriptional regulation. Our findings suggest that longer triplet repeats in the 5'UTR of the RELN gene center vulnerability to autisticdisorder.

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Documento generato il 01/04/20 alle ore 11:25:09