Novel Alu retrotransposon insertion leading to Alstrom syndrome

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dc.contributor.authorTaskesen, Mustafa
dc.contributor.authorCollin, Gayle B.
dc.contributor.authorEvsikov, Alexei V.
dc.contributor.authorGuzel, Aysegul
dc.contributor.authorOzgul, R. Koksal
dc.contributor.authorMarshall, Jan D.
dc.contributor.authorNaggert, Juergen K.
dc.date.accessioned2024-04-24T16:01:54Z
dc.date.available2024-04-24T16:01:54Z
dc.date.issued2012
dc.departmentDicle Üniversitesien_US
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.en_US
dc.description.sponsorshipNational Institutes of Health [HD036878]; Jackson Laboratory; US PHS National Institutes of Health [CA34196]en_US
dc.description.sponsorshipThe authors are grateful to the individuals with Alstrom syndrome and their families who continue to show enthusiastic support of research efforts. This work was supported by National Institutes of Health grant HD036878 (JDM, GBC, JKN) and by The Jackson Laboratory institutional multimedia, allele typing, and sequencing services supported by US PHS National Institutes of Health grant CA34196.en_US
dc.identifier.doi10.1007/s00439-011-1083-9
dc.identifier.endpage413en_US
dc.identifier.issn0340-6717
dc.identifier.issn1432-1203
dc.identifier.issue3en_US
dc.identifier.pmid21877133
dc.identifier.scopus2-s2.0-84859507544
dc.identifier.scopusqualityQ1
dc.identifier.startpage407en_US
dc.identifier.urihttps://doi.org/10.1007/s00439-011-1083-9
dc.identifier.urihttps://hdl.handle.net/11468/14479
dc.identifier.volume131en_US
dc.identifier.wosWOS:000300252700008
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofHuman Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleNovel Alu retrotransposon insertion leading to Alstrom syndromeen_US
dc.titleNovel Alu retrotransposon insertion leading to Alstrom syndrome
dc.typeArticleen_US

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