Birth defects caused by mutations in human <i>GLI3</i> and mouse <i>Gli3</i> genes

• Ichiro Naruse

• Etsuko Ueta

• Yoshiki Sumino

• Masaya Ogawa

• Satoshi Ishikiriyama

抄録

GLI3 is the gene responsible for Greig cephalopolysyndactyly syndrome (GCPS), Pallister–Hall syndrome (PHS) and Postaxial polydactyly type‐A (PAP‐A). Genetic polydactyly mice such as Pdn/Pdn (Polydactyly Nagoya), Xt H /Xt H (Extra toes) and Xt J /Xt J (Extra toes Jackson) are the mouse homolog of GCPS, and Gli3 tmlUrtt /Gli3 tmlUrt is produced as the mouse homolog of PHS. In the present review, relationships between mutation points of GLI3 and Gli3 , and resulting phenotypes in humans and mice are described. It has been confirmed that mutation in the upstream or within the zinc finger domain of the GLI3 gene induces GCPS; that in the post‐zinc finger region including the protease cleavage site induces PHS; and that in the downstream of the GLI3 gene induces PAP‐A. A mimicking phenomenon was observed in the mouse homolog. Therefore, human GLI3 and mouse Gli3 genes have a common structure, and it is suggested here that mutations in the same functional regions produce similar phenotypes in human and mice. The most important issue might be that GCPS and PHS exhibit an autosomal dominant trait, but mouse homologs, such as Pdn/Pdn , Xt H /Xt H , Xt J /Xt J and Gli3 tmlUrt /Gli3 tmlUrt , are autosomal recessive traits in the manifestation of similar phenotypes to human diseases. It is discussed here how the reduced amounts of the GLI3 protein, or truncated mutant GLI3 protein, disrupt development of the limbs, head and face.

収録刊行物

• Congenital Anomalies

  Congenital Anomalies 50 (1), 1-7, 2010-02-24

  Wiley

キーワード

• Developmental Biology
• Embryology
• General Medicine
• Pediatrics, Perinatology and Child Health

詳細情報

• CRID: 1360566396478973952
• NII論文ID: 10029577246
• NII書誌ID: AN10066760
• DOI: 10.1111/j.1741-4520.2009.00266.x
• ISSN: 17414520
• ISSN: 09143505
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1741-4520.2009.00266.x
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1741-4520.2009.00266.x
• Web Site: https://search.jamas.or.jp/link/ui/2010265289
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