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Titolo:
MOUSE HUNTINGTONS-DISEASE GENE HOMOLOG (HDH)
Autore:
BARNES GT; DUYAO MP; AMBROSE CM; MCNEIL S; PERSICHETTI F; SRINIDHI J; GUSELLA JF; MACDONALD ME;
Indirizzi:
MASSACHUSETTS GEN HOSP E,MOLEC NEUROGENET UNIT BOSTON MA 02129 HARVARD UNIV,SCH MED,DEPT GENET BOSTON MA 02114
Titolo Testata:
Somatic cell and molecular genetics
fascicolo: 2, volume: 20, anno: 1994,
pagine: 87 - 97
SICI:
0740-7750(1994)20:2<87:MHGH(>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
CAG REPEAT LENGTH; TRINUCLEOTIDE REPEAT; INSTABILITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
G.T. Barnes et al., "MOUSE HUNTINGTONS-DISEASE GENE HOMOLOG (HDH)", Somatic cell and molecular genetics, 20(2), 1994, pp. 87-97

Abstract

The incurable neurodegenerative disorder, Huntington's disease (HD), is caused by an expanded, unstable CAG repeat encoding a stretch of polyglutamine in a 4p16.3 gene (HD) of unknown function. Near the CAG repeat is a polyproline-encoding CCG repeat that shows more limited allelic variation. The mouse homologue, Hdh, has been mapped to chromosome5, in a region devoid of mutations causing any comparable phenotype. We have isolated overlapping cDNAs from the Hdh gene and compared their sequences with the human transcript. The consensus mouse coding sequence is 86% identical to the human at the DNA level and 91% identical at the protein level Despite the overall high level of conservation, Hdh possesses an imperfect CAG repeat encoding only seven consecutive glutamines, compared to the 13-36 residues that ala normal in man. Although no evidence for polymorphic variation of the CAG repeat was seen,a nearby CCG repeat differed in length by one unit between several strains of laboratory mouse and Mus spretus. The absence of a long CAG repeat in the mouse is consistent with the lack of a spontaneous mouse model of HD. The information presented concerning the sequence of the mouse gene should facilitate attempts to create such a model.

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Documento generato il 13/07/20 alle ore 17:21:53