Article
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
Proceedings of the National Academy of Sciences of the United States of America - 19 Dec 2017
Bragg D Cristopher, Mangkalaphiban Kotchaphorn, Vaine Christine A, Kulkarni Nichita J, Shin David, Yadav Rachita, Dhakal Jyotsna, Ton Mai-Linh, Cheng Anne, Russo Christopher T, Ang Mark, Acuña Patrick, Go Criscely, Franceour Taylor N, Multhaupt-Buell Trisha, Ito Naoto, Müller Ulrich, Hendriks William T, Breakefield Xandra O, Sharma Nutan, Ozelius Laurie J
Abstract excerpt
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1 This unique insertion coincides with six additional noncoding sequence changes in TAF1, the gene that encodes TATA-binding protein-associated factor-1, which appear to be inherited together as an identical haplotype in all reported cases....
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