Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2

Boucher, C. A., Winchester, C. L., Hamilton, G. M., Winter, A. D., Johnson, K. J. and Bailey, M. E.S. (2000) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. Gene, 247(1-2), pp. 145-151. (doi:10.1016/S0378-1119(00)00105-0) (PMID:10773454)

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Abstract

Vertebrate genes with sequence similarity to the Drosophila homeobox gene, sine oculis (so), constitute the SIX family. There is notable expression of members of this family in anterior neural structures, and several SIX genes have been shown to play roles in vertebrate and insect development, or have been implicated in maintenance of the differentiated state of tissues. Mutations in three of these genes in man (SIX5, SIX6 and SIX3) are associated with severe phenotypes, and therefore, the cloning of other human genes from this family is of interest. We have cloned and characterised the gene that encodes human SIX2, elucidated its gene structure and conducted expression studies in a range of tissues. SIX2 is widely expressed in the late first-trimester fetus, but has a limited range of expression sites in the adult. The expression pattern of SIX2 and its localisation to chromosome 2p15–p16 will be of use in assessing its candidacy in human developmental disorders.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Bailey, Dr Mark
Authors: Boucher, C. A., Winchester, C. L., Hamilton, G. M., Winter, A. D., Johnson, K. J., and Bailey, M. E.S.
College/School:College of Medical Veterinary and Life Sciences > School of Life Sciences
Journal Name:Gene
Publisher:Elsevier
ISSN:0378-1119
ISSN (Online):1879-0038

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