Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair

dc.authorid0000-0001-5515-3811en_US
dc.authorid0000-0002-2408-5294en_US
dc.authorid0000-0003-1685-0352en_US
dc.authorid0000-0001-9226-5134
dc.contributor.authorMahmoudi, Hassnaa
dc.contributor.authorTuğ, Esra
dc.contributor.authorParlak, Ali Haydar
dc.contributor.authorAtasoy, Halil Ibrahim
dc.contributor.authorLudwig, Michael
dc.contributor.authorPolat, Mualla
dc.date.accessioned2021-06-23T19:29:38Z
dc.date.available2021-06-23T19:29:38Z
dc.date.issued2012
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractHypotrichosis is a rare form of progressive hair loss characterized by sparse and occasionally woolly hair that is curly and breaks easily. Disease-causing mutations in LIPH, LPAR6 and KRT74 have recently been identified. We describe a four-generation pedigree from Turkey following an autosomal recessive pattern, in which the four affected members had hypotrichosis and woolly hair. By sequencing LPAR6 and the use of SNP arrays, we revealed a homozygous loss of the entire LPAR6 gene in the affected individuals. We hypothesize that the 12-kb deletion resulted from illegitimate recombination secondary to slip-replication. The orientation of three Alu repeats around LPAR6 may have provoked the formation of a triple-barrel structure during replication, thereby allowing strand slipping. This first report of complete LPAR6 loss expands the spectrum of known LPAR6 mutations and suggests a novel mechanism for this gene and for the formation of DNA rearrangements in general.en_US
dc.identifier.doi10.1111/j.1600-0625.2012.01504.x
dc.identifier.endpage471en_US
dc.identifier.issn0906-6705
dc.identifier.issn1600-0625
dc.identifier.issue6en_US
dc.identifier.pmid22621192en_US
dc.identifier.scopus2-s2.0-84861474836en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage469en_US
dc.identifier.urihttps://doi.org/10.1111/j.1600-0625.2012.01504.x
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7202
dc.identifier.volume21en_US
dc.identifier.wosWOS:000304394100017en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorParlak, Ali Haydar
dc.institutionauthorAtasoy, Halil Ibrahim
dc.institutionauthorPolat, Mualla
dc.language.isoenen_US
dc.publisherWiley-Blackwellen_US
dc.relation.ispartofExperimental Dermatologyen_US
dc.relation.publicationcategoryEditöre Mektup - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypotrichosisen_US
dc.subjectWoolly Hairen_US
dc.subjectLPAR6en_US
dc.subjectP2RY5en_US
dc.subjectDeletionen_US
dc.subjectAlu Elementsen_US
dc.titleIdentification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hairen_US
dc.typeLetteren_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Yükleniyor...
Küçük Resim
İsim:
hassna-mahmoudi.pdf
Boyut:
397.04 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin/Full Text