Abstract:
:Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Knight MA,Hernandez D,Diede SJ,Dauwerse HG,Rafferty I,van de Leemput J,Forrest SM,Gardner RJ,Storey E,van Ommen GJ,Tapscott SJ,Fischbeck KH,Singleton ABdoi
10.1093/hmg/ddn283subject
Has Abstractpub_date
2008-12-15 00:00:00pages
3847-53issue
24eissn
0964-6906issn
1460-2083pii
ddn283journal_volume
17pub_type
杂志文章abstract::Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. Symptoms include renal salt wasting, hyperuricemia, gout, hypertension and...
journal_title:Human molecular genetics
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pub_type: 杂志文章,评审
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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更新日期:2013-04-15 00:00:00
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journal_title:Human molecular genetics
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