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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: London : Nature Publishing Group, copyright 2011-
    • الموضوع:
      Genetic Predisposition to Disease*; Bladder Exstrophy/*genetics ; LIM-Homeodomain Proteins/*genetics ; Mesoderm/*metabolism ; Organogenesis/*genetics ; Transcription Factors/*genetics ; Urinary Tract/*metabolism; Animals ; Bladder Exstrophy/metabolism ; Bladder Exstrophy/pathology ; Embryo, Mammalian ; Female ; Gene Expression Regulation, Developmental ; Humans ; LIM-Homeodomain Proteins/metabolism ; Larva/genetics ; Larva/growth & development ; Larva/metabolism ; Mesoderm/abnormalities ; Mesoderm/growth & development ; Mice ; Polymorphism, Single Nucleotide ; Pronephros/growth & development ; Pronephros/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Transcription Factors/metabolism ; Urinary Tract/abnormalities ; Urinary Tract/growth & development ; Zebrafish
    • نبذة مختصرة :
      Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10 -08 ). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 × 10 -19 . Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
      Competing Interests: The authors declare no competing financial interests.
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    • Grant Information:
      MR/L002744/1 United Kingdom MRC_ Medical Research Council
    • الرقم المعرف:
      0 (LIM-Homeodomain Proteins)
      0 (Protein Isoforms)
      0 (Transcription Factors)
      0 (insulin gene enhancer binding protein Isl-1)
    • الموضوع:
      Date Created: 20170209 Date Completed: 20181030 Latest Revision: 20220129
    • الموضوع:
      20231215
    • الرقم المعرف:
      PMC5296905
    • الرقم المعرف:
      10.1038/srep42170
    • الرقم المعرف:
      28176844