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Titolo:
ANALYSIS OF THE ORGANIZATION AND LOCALIZATION OF THE FSHD-ASSOCIATED TANDEM ARRAY IN PRIMATES - IMPLICATIONS FOR THE ORIGIN AND EVOLUTION OF THE 3.3 KB REPEAT FAMILY
Autore:
CLARK LN; KOEHLER U; WARD DC; WIENBERG J; HEWITT JE;
Indirizzi:
UNIV MANCHESTER,SCH BIOL SCI,3239 STOPFORD BLDG,OXFORD RD MANCHESTER M13 9PT LANCS ENGLAND UNIV MANCHESTER,SCH BIOL SCI MANCHESTER M13 9PT LANCS ENGLAND UNIV MUNICH,INST ANTHROPOL & HUMAN GENET D-8000 MUNICH GERMANY YALE UNIV,SCH MED,DEPT GENET NEW HAVEN CT 06510
Titolo Testata:
Chromosoma
fascicolo: 3, volume: 105, anno: 1996,
pagine: 180 - 189
SICI:
0009-5915(1996)105:3<180:AOTOAL>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY; HUMAN ACROCENTRIC CHROMOSOMES; IN-SITU HYBRIDIZATION; DNA REARRANGEMENTS; GREAT APES; SEQUENCES; LOCUS; 4Q; RECOMBINATION; DELETIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
L.N. Clark et al., "ANALYSIS OF THE ORGANIZATION AND LOCALIZATION OF THE FSHD-ASSOCIATED TANDEM ARRAY IN PRIMATES - IMPLICATIONS FOR THE ORIGIN AND EVOLUTION OF THE 3.3 KB REPEAT FAMILY", Chromosoma, 105(3), 1996, pp. 180-189

Abstract

The D4Z4 locus is a polymorphic tandem repeat sequence on human chromosome 4q35. This locus is implicated in the neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD). The majority of sporadic cases of FSHD are associated with de novo DNA deletions within D4Z4. However, it is still not known how this rearrangement causes FSHD. Although the repeat contains homeobox sequences, despite exhaustive searching, no transcript from this locus has been identified. Therefore, it has been proposed that the deletion may invoke a position effect on a nearby gene. In order to try to understand the role of the D4Z4 repeat in this disease, we decided to investigate its conservation in other species. In this study, the long-range organisation and localisation ofloci homologous to D4Z4 were investigated in primates using Southern blot analysis, pulsed field gel electrophoresis and fluorescence in situ hybridisation. In humans, probes to D4Z4, identify, in addition to the 4q35 locus, a closely related tandem repeat at 10qter and many related repeat loci mapping to the acrocentric chromosomes; a similar pattern was seen in all the great apes. In Old World monkeys, however, only one locus was detected in addition to that on the homologue of human chromosome 4, suggesting that the D4Z4 locus may have originated directly from the progenitor locus. The finding that tandem arrays closely related to D4Z4 have been maintained at loci homologous to human chromosome 4q35-qter in apes and Old World monkeys suggests a functionally important role for these sequences.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 11:14:40