Kwon H Y, Bultman S J, Löffler C, Chen W J, Furdon P J, Powell J G, Usala A L, Wilkison W, Hansmann I, Woychik R P
Biology Division, Oak Ridge National Laboratory, TN 37831-8077.
Proc Natl Acad Sci U S A. 1994 Oct 11;91(21):9760-4. doi: 10.1073/pnas.91.21.9760.
The agouti (a) locus in mouse chromosome 2 normally regulates coat 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.
小鼠2号染色体上的刺豚鼠（a）基因座通常调控毛色色素沉着。小鼠刺豚鼠基因最近被克隆出来，显示其编码一种具有共有信号肽的独特的131个氨基酸的蛋白质。在此，我们描述了使用种间DNA杂交方法克隆小鼠刺豚鼠基因的人类同源基因。序列分析表明，人类刺豚鼠基因的编码区与小鼠基因有85%的同一性，并且有可能编码一种具有共有信号肽的132个氨基酸的蛋白质。使用体细胞杂交定位板和荧光原位杂交进行的染色体定位表明，人类刺豚鼠基因定位于20q11.2染色体带。这一结果显示，人类刺豚鼠基因与几个性状紧密连锁，包括一个名为MODY（青少年成熟型糖尿病）的基因座以及另一个与髓系白血病发生相关的区域。对来自几种成人人类组织的RNA进行的初步表达研究表明，人类刺豚鼠基因在脂肪组织和睾丸中表达。
