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将ARIX同源结构域基因定位于小鼠7号染色体和人类11号染色体q13区域。

Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13.

作者信息

Johnson K R, Smith L, Johnson D K, Rhodes J, Rinchik E M, Thayer M, Lewis E J

机构信息

Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon, 97201-3098, USA.

出版信息

Genomics. 1996 May 1;33(3):527-31. doi: 10.1006/geno.1996.0230.

Abstract

The recently described homeodomain protein ARIX is expressed specifically in noradrenergic cell types of the sympathetic nervous system, brain, and adrenal medulla. ARIX interacts with regulatory elements of the genes encoding the noradrenergic biosynthetic enzymes tyrosine hydroxylase and dopamine beta-hydroxylase, suggesting a role for ARIX in expression of the noradrenergic phenotype. In the study described here, the mouse and human ARIX genes are mapped. Using segregation analysis of two panels of mouse backcross DNA, mouse Arix was positioned approximately 50 cM distal to the centromere of chromosome 7, near Hbb. Human ARIX was positioned through analysis of somatic cell hybrids and fluorescence in situ hybridization of human metaphase chromosomes to chromosome 11q13.3-q13.4. These map locations extend and further define regions of conserved synteny between mouse and human genomes and identify a new candidate gene for inherited developmental disorders linked to human 11q13.

摘要

最近描述的同源域蛋白ARIX特异性表达于交感神经系统、脑和肾上腺髓质的去甲肾上腺素能细胞类型中。ARIX与编码去甲肾上腺素能生物合成酶酪氨酸羟化酶和多巴胺β-羟化酶的基因的调控元件相互作用,提示ARIX在去甲肾上腺素能表型的表达中发挥作用。在本文所述的研究中,对小鼠和人类ARIX基因进行了定位。通过对两组小鼠回交DNA进行分离分析,将小鼠Arix定位在7号染色体着丝粒远端约50 cM处,靠近Hbb。通过对体细胞杂种进行分析以及对人类中期染色体与11号染色体q13.3-q13.4进行荧光原位杂交,将人类ARIX定位。这些图谱位置扩展并进一步界定了小鼠和人类基因组之间保守同线性的区域,并确定了一个与人类11q13相关的遗传性发育障碍的新候选基因。

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