Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2
Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2
复制标题
DOI：
10.1016/s0378-1119(00)00105-0
复制
发表时间：
2000-04-18
期刊：
影响因子：
3.5
通讯作者：
Bailey, MES
中科院分区：
文献类型：
--
作者：
Boucher, CA;Winchester, CL;Bailey, MES
与果蝇同源框基因Sine Oculis(SO)序列相似的脊椎动物基因组成了这六个家族。该家族成员在前神经结构中有显著的表达，已有6个基因被证明在脊椎动物和昆虫的发育中发挥作用，或与维持组织的分化状态有关。人类这些基因中的三个(SIX5、SIX6和SIX3)的突变与严重的表型有关，因此，从这个家族克隆其他人类基因是有意义的。我们已经克隆和鉴定了编码人类SIX2的基因，阐明了它的基因结构，并在一系列组织中进行了表达研究。SIX2在妊娠晚期胎儿中广泛表达，但在成人中的表达部位有限。SIX2的表达模式及其在染色体2p15-p16上的定位将有助于评估其在人类发育障碍中的候选地位。(C)2000 Elsevier Science B.V.保留所有权利。
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. (C) 2000 Elsevier Science B.V. All rights reserved.