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排序方式: 共有292条查询结果,搜索用时 15 毫秒
291.
Burright EN; Davidson JD; Duvick LA; Koshy B; Zoghbi HY; Orr HT 《Human molecular genetics》1997,6(4):513-518
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant
neurodegenerative disorder caused by the expansion of a polyglutamine tract
within the SCA1 gene product, ataxin-1. Expansion of this tract is believed
to result in a gain of function by the mutant protein, perhaps through
altered self-associations or interactions with other cellular proteins. We
have used the yeast two hybrid system to determine if ataxin-1 is capable
of multimerization. This analysis revealed that ataxin-1 does have the
ability to self-associate, however, this association does not appear to be
influenced by expansion of the polyglutamine tract. Consistent with this
finding, deletion analysis excluded the involvement of the polyglutamine
tract in ataxin- 1 self-association, and instead localized the
multimerization region to amino acids 495-605 of the wild type protein.
These results, while identifying an ataxin-1 self-interaction region, fail
to support a proposed model of polar-zipper mediated multimerization
involving the ataxin-1 polyglutamine tract.
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292.
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia 总被引:4,自引:0,他引:4
Pulkkinen L; Kimonis VE; Xu Y; Spanou EN; McLean WH; Uitto J 《Human molecular genetics》1997,6(5):669-674
Junctional epidermolysis bullosa with congenital pyloric or duodenal
atresia is a distinct variant within this group of autosomal recessive
blistering skin diseases. In this study we demonstrate, for the first time,
a homozygous mutation in the alpha6 integrin gene (ITGA6) in a family with
three affected individuals. For this purpose, we first determined the
genomic organization of ITGA6, and placed the gene on chromosome 2q by high
resolution radiation hybrid mapping. Heteroduplex analysis of PCR products
containing the individual exons of ITGA6, followed by direct nucleotide
sequencing, revealed that the proband was homozygous for a G-to-T
transversion in the +1 position of intron 12. This mutation,
1856+1G-->T, affects an invariant base of the 5' donor splice site
predicting aberrant splicing involving exon 12. The mutation was verified
in the proband's DNA by restriction enzyme digestion which also confirmed
that the parents were heterozygous carriers of this mutation. Altered
expression of alpha6 integrin, which forms a heterodimer with the beta4
subunit at the dermal-epidermal junction, would explain fragility and
blistering as a result of minor trauma to the skin.
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