title: SOX9 overexpression plays a potential role in idiopathic congenital             talipes equinovarus.
abstract: The collagen, type IX, alpha 1 (COL9A1) gene was previously identified as             a candidate gene for idiopathic congenital talipes equinovarus (ICTEV), a congenital             lower limb deformity in humans. In the present study, increased expression levels             of COL9A1 were identified in the abductor hallucis muscle of ICTEV patients compared             with those in control samples. The COL9A1 gene is regulated by SRY (sex‑determining             region Y)‑box 9 (SOX9). Immunofluorescence analysis of SOX9 and COL9A1 proteins             identified colocalization to the sarcolemma, endomysium and muscle membrane in             muscle samples of ICTEV. No mutations in the exons and promoters of SOX9 were             detected in blood samples of 84 ICTEV patients by denaturing gradient gel electrophoresis.             mRNA and protein expression levels of SOX9 were detected by real‑time polymerase             chain reaction and western blot analysis, respectively and were found to be significantly             higher in ICTEV muscle samples compared with those in control samples. Based on             present observations, we hypothesize that overexpression of the SOX9 gene may             play a role in the genetic etiology of ICTEV.
authors.affiliation: Department of Medical Genetics, China Medical University, Shenyang 110001, PR China.
authors.forename: Zhengdong
authors.initials: Z
authors.lastname: Wang
authors.forename: Nan
authors.initials: N
authors.lastname: Yan
authors.forename: Liying
authors.initials: L
authors.lastname: Liu
authors.forename: Donghua
authors.initials: D
authors.lastname: Cao
authors.forename: Ming
authors.initials: M
authors.lastname: Gao
authors.forename: Changkun
authors.initials: C
authors.lastname: Lin
authors.forename: Chunlian
authors.initials: C
authors.lastname: Jin
mesh_terms: D002648:Child; D002675:Child, Preschool; D003025:Clubfoot / Q000378:metabolism* / Q000473:pathology; D024081:Collagen Type IX / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D012333:RNA, Messenger / Q000378:metabolism; D060888:Real-Time Polymerase Chain Reaction; D055758:SOX9 Transcription Factor / Q000235:genetics / Q000378:metabolism*; D012508:Sarcolemma / Q000378:metabolism
chemical_list: C439970:COL9A1 protein, human; D024081:Collagen Type IX; D012333:RNA, Messenger; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human