Inoue H, Rudnick A, German M S, Veile R, Donis-Keller H, Permutt M A
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Genomics. 1997 Mar 1;40(2):367-70. doi: 10.1006/geno.1996.4568.
Nkx6.1 (gene symbol NKX6A), a new member of the NK homeobox gene family, was recently identified in rodent pancreatic islet beta-cell lines. The pattern of expression suggested that this gene product might be important for control of islet development and/or regulation of insulin biosynthesis. We now report cloning of human NKX6A, characterization of its genomic structure, and its chromosomal localization. The predicted protein of human NKX6A contained 367 amino acids and had 97% identity to the hamster protein. The highly conserved NK decapeptide and homeodomain regions were identical between human and hamster, suggesting functional importance of these domains. The coding region spanned approximately 4.8 kb and was composed of three exons. The gene was localized to four CEPH "B" yeast artificial chromosome clones (914B4, 951G9, 981D6, and 847B3), and a nearby polymorphic marker (D4S1538) on chromosome 4 was identified < 1270 kb from the gene. Using fluorescence in situ hybridization, we also determined that NKX6A maps to 4q21.2-q22.
Nkx6.1（基因符号NKX6A）是NK同源框基因家族的一个新成员，最近在啮齿动物胰岛β细胞系中被鉴定出来。其表达模式表明该基因产物可能对胰岛发育的控制和/或胰岛素生物合成的调节很重要。我们现在报告人类NKX6A的克隆、其基因组结构的特征以及其染色体定位。人类NKX6A的预测蛋白包含367个氨基酸，与仓鼠蛋白有97%的同一性。人类和仓鼠之间高度保守的NK十肽和同源结构域区域是相同的，表明这些结构域具有功能重要性。编码区跨度约4.8 kb，由三个外显子组成。该基因定位于四个CEPH“B”酵母人工染色体克隆（914B4、951G9、981D6和847B3），并且在4号染色体上确定了一个距离该基因小于1270 kb的附近多态性标记（D4S1538）。使用荧光原位杂交技术，我们还确定NKX6A定位于4q21.2 - q22。
