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Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
Congenit Anom (Kyoto) 2010; 50(1):1-7CA

Abstract

ABSTRACT

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.

Authors+Show Affiliations

Tottori University, Yonago, Japan. inaruse@med.tottori-u.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

20201963

Citation

Naruse, Ichiro, et al. "Birth Defects Caused By Mutations in Human GLI3 and Mouse Gli3 Genes." Congenital Anomalies, vol. 50, no. 1, 2010, pp. 1-7.
Naruse I, Ueta E, Sumino Y, et al. Birth defects caused by mutations in human GLI3 and mouse Gli3 genes. Congenit Anom (Kyoto). 2010;50(1):1-7.
Naruse, I., Ueta, E., Sumino, Y., Ogawa, M., & Ishikiriyama, S. (2010). Birth defects caused by mutations in human GLI3 and mouse Gli3 genes. Congenital Anomalies, 50(1), pp. 1-7. doi:10.1111/j.1741-4520.2009.00266.x.
Naruse I, et al. Birth Defects Caused By Mutations in Human GLI3 and Mouse Gli3 Genes. Congenit Anom (Kyoto). 2010;50(1):1-7. PubMed PMID: 20201963.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Birth defects caused by mutations in human GLI3 and mouse Gli3 genes. AU - Naruse,Ichiro, AU - Ueta,Etsuko, AU - Sumino,Yoshiki, AU - Ogawa,Masaya, AU - Ishikiriyama,Satoshi, PY - 2010/3/6/entrez PY - 2010/3/6/pubmed PY - 2010/5/25/medline SP - 1 EP - 7 JF - Congenital anomalies JO - Congenit Anom (Kyoto) VL - 50 IS - 1 N2 - ABSTRACT 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. SN - 1741-4520 UR - https://www.unboundmedicine.com/medline/citation/20201963/Birth_defects_caused_by_mutations_in_human_GLI3_and_mouse_Gli3_genes_ L2 - https://doi.org/10.1111/j.1741-4520.2009.00266.x DB - PRIME DP - Unbound Medicine ER -