Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability
نویسندگان
چکیده
منابع مشابه
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length ...
متن کاملExpansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast.
Spinocerebellar ataxia 10 (SCA10) is an autosomal dominant disease caused by large-scale expansions of the (ATTCT)(n) repeat within an intron of the human ATXN10 gene. In contrast to other expandable repeats, this pentanucleotide repeat does not form stable intra- or interstranded DNA structures, being a DNA unwinding element instead. We analyzed the instability of the (ATTCT)(n) repeat in a ye...
متن کاملThe ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.
Nucleosome packaging influences many aspects of DNA metabolism such as replication, repair and transcription, and via this link likely has further downstream effects on genome stability. The instability and expansion of repetitive sequences is associated with at least 42 human diseases, yet the molecular conditions contributing to repeat instability have remained largely undetermined. Previousl...
متن کاملMassive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.
IMPORTANCE We report the first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as large as (CAG)92-250. OBSERVATIONS A 38-year-old woman with classic SCA7 (and a son, who died at age 3 years) had pronounced cerebellar atrophy and a renal biopsy specimen that showed focal segmental glomerulosclerosis with abn...
متن کاملClinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.
BACKGROUND Spinocerebellar ataxia type 10, an autosomal dominant disease characterized by ataxia and seizures, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat. OBJECTIVES To characterize the phenotypic expression of spinocerebellar ataxia type 10 and to examine the genotype-phenotype correlations in 2 large families. DESIGN Clinical characterization and genotype-p...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.32