title: Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.
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.
authors.affiliation: Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK.
authors.forename: C A
authors.initials: CA
authors.lastname: Boucher
authors.forename: C L
authors.initials: CL
authors.lastname: Winchester
authors.forename: G M
authors.initials: GM
authors.lastname: Hamilton
authors.forename: A D
authors.initials: AD
authors.lastname: Winter
authors.forename: K J
authors.initials: KJ
authors.lastname: Johnson
authors.forename: M E
authors.initials: ME
authors.lastname: Bailey
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D005796:Genes / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C484762:SIX2 protein, human; D004247:DNA