The ZIC gene family in development and disease

• Published in: Clinical genetics Vol. 67; no. 4; pp. 290 - 296
• Main Authors: Grinberg, I, Millen, KJ
• Format: Journal Article
• Language: English
• Published: Oxford, UK; Malden, USA Blackwell Publishing Ltd/Inc 01.04.2005; Blackwell; Blackwell Publishing Ltd
• Subjects: Animals; Biological and medical sciences; Birth defects; Carrier Proteins - genetics; congenital malformations; Dandy-Walker; Dandy-Walker Syndrome - genetics; development; Diseases of the osteoarticular system; Diseases of the spine; Functional Laterality - genetics; Gene Deletion; Gene expression; Gene Expression Regulation, Developmental; General aspects. Genetic counseling; Genetics; Heart Defects, Congenital - genetics; heterotaxy; holoprosencephaly; Holoprosencephaly - genetics; Homeodomain Proteins - genetics; Humans; Malformations of the nervous system; Medical disorders; Medical genetics; Medical sciences; Mice; Mutation; Nerve Tissue Proteins - genetics; neural tube defects; Neural Tube Defects - genetics; Neurology; Nuclear Proteins; Transcription Factors - genetics; ZIC; Zinc Fingers - genetics; Human; Arhinencephaly; Nervous system diseases; Congenital; Family study; Diseases of the osteoarticular system; neural tube defects; Spine disease; congenital malformations; holoprosencephaly; Congenital disease; Neural tube defect; Cerebral disorder; Gene; Malformation; ZIC; Central nervous system disease; heterotaxy; Development; Family environment; Genetics; Dandy-Walker
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2005.00418.x

The human ZIC gene family is comprised of five members encoding zinc‐finger transcription factors, which are the vertebrate homologs of the Drosophila odd‐paired gene. Mutations in ZIC genes in humans have recently been implicated in a wide variety of congenital malformations, including Dandy‐Walker malformation, holoprosencephaly, neural tube defects, and heterotaxy. Mutant analysis of these genes in mice has underscored the conserved developmental roles of these genes. Further, this analysis has begun to elucidate the molecular and developmental mechanisms underlying these important birth defects.