MOLECULAR-STRUCTURE AND CHROMOSOMAL MAPPING OF THE HUMAN HOMOLOG OF THE AGOUTI GENE
MOLECULAR-STRUCTURE AND CHROMOSOMAL MAPPING OF THE HUMAN HOMOLOG OF THE AGOUTI GENE
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DOI：
10.1073/pnas.91.21.9760
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发表时间：
1994-10-11
影响因子：
11.1
通讯作者：
WOYCHIK, RP
中科院分区：
文献类型：
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作者：
KWON, HY;BULTMAN, SJ;WOYCHIK, RP
小鼠2号染色体上的agglutamine（a）基因座正常调节煤炭颜色色素沉着。小鼠agglutinase基因最近被克隆，并显示编码一个独特的131个氨基酸的蛋白质与共识信号肽。在这里，我们描述了人类同源的小鼠agglutinase基因的克隆使用种间DNA杂交的方法。序列分析表明，人agglutinin基因的编码区与小鼠基因的同源性为85%，并有可能编码一个132个氨基酸的蛋白质，具有一个共有的信号肽。利用体细胞杂交定位板和荧光原位杂交进行染色体定位，结果表明人agglutinase基因定位于染色体带20q11.2。这一结果表明，人类agglutinase基因与几个特征密切相关，包括一个名为MODY（年轻人成熟期糖尿病）的基因座和另一个与髓性白血病发展相关的区域。用来自几种成人组织的RNA进行的初步表达研究表明，人agglutinase基因在脂肪组织和睾丸中表达。
The agouti (a) locus in mouse chromosome 2 normally regulates coal color pigmentation. The mouse agouti gene was recently cloned and shown to encode a distinctive 131-amino acid protein with a consensus signal peptide. Here we describe the cloning of the human homolog of the mouse agouti gene using an interspecies DNA-hybridization approach. Sequence analysis revealed that the coding region of the human agouti gene is 85% identical to the mouse gene and has the potential to encode a protein of 132 amino acids with a consensus signal peptide. Chromosomal assignment using somatic-cell-hybrid mapping panels and fluorescence in situ hybridization demonstrated that the human agouti gene maps to chromosome band 20q11.2. This result revealed that the human agouti gene is closely linked to several traits, including a locus called MODY (for maturity onset diabetes of the young) and another region that is associated with the development of myeloid leukemia. initial expression studies with RNA from several adult human tissues showed that the human agouti gene is expressed in adipose tissue and testis.