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dc.contributor.authorTaşkesen, Mustafa
dc.contributor.authorCollin, Gayle B.
dc.contributor.authorEvsikov, Alexei V.
dc.contributor.authorGüzel, Ayşegül
dc.contributor.authorÖzgül, Rıza Köksal
dc.contributor.authorMarshall, Jan D.
dc.contributor.authorNaggert, Juergen K.
dc.date.accessioned2020-01-29T10:47:29Z
dc.date.available2020-01-29T10:47:29Z
dc.date.issued2012
dc.identifier.issn0340-6717
dc.identifier.urihttps://doi.org/10.1007/s00439-011-1083-9
dc.identifier.urihttp://hdl.handle.net/11655/21908
dc.description.abstractAlstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alstrom syndrome is caused by recessively inherited mutations in the ALMS1 gene, which codes for a putative ciliary protein. Alstrom syndrome is characterized by extensive allelic heterogeneity, however, founder effects have been observed in some populations. To date, more than 100 causative ALMS1 mutations have been identified, mostly frameshift and non-sense alterations resulting in termination signals in ALMS1. Here, we report a complex Turkish kindred in which sequence analysis uncovered an insertion of a novel 333 basepair Alu Ya5 SINE retrotransposon in the ALMS1 coding sequence, a previously unrecognized mechanism underlying the mutations causing Alstrom syndrome. It is extraordinarily rare to encounter the insertion of an Alu retrotransposon in the coding sequence of a gene. The high frequency of the mutant ALMS1 allele in this isolated population suggests that this recent retrotransposition event spreads quickly, and may be used as a model to study the population dynamics of deleterious alleles in isolated communities.tr_TR
dc.language.isoengtr_TR
dc.publisherSpringertr_TR
dc.relation.isversionof10.1007/s00439-011-1083-9tr_TR
dc.rightsinfo:eu-repo/semantics/openAccesstr_TR
dc.subjectALMS1tr_TR
dc.subjectAlström syndrometr_TR
dc.subjectInsertion mutationtr_TR
dc.subjectShort interspersed nuclear elements (SINE)tr_TR
dc.subject.lcshSağlıktr_TR
dc.titleNovel Alu Retrotransposon Insertion Leading To Alstrom Syndrometr_TR
dc.typeinfo:eu-repo/semantics/articletr_TR
dc.relation.journalHuman Geneticstr_TR
dc.contributor.departmentPediatrik Temel Bilimlertr_TR
dc.identifier.volume131tr_TR
dc.identifier.issue3tr_TR
dc.identifier.startpage407tr_TR
dc.identifier.endpage413tr_TR
dc.indexingWoStr_TR
dc.fundingYoktr_TR


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