Barton D E, Kwon B S, Francke U
Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
Genomics. 1988 Jul;3(1):17-24. doi: 10.1016/0888-7543(88)90153-x.
The enzyme tyrosinase (monophenol,L-dopa:oxygen oxidoreductase; EC 1.14.18.1) catalyzes the first two steps in the conversion of tyrosine to melanin, the major pigment found in melanocytes. Some forms of oculocutaneous albinism, characterized by the absence of melanin in skin and eyes and by a deficiency of tyrosinase activity, may result from mutations in the tyrosinase structural gene. A recently isolated human tyrosinase cDNA was used to map the human tyrosinase locus (TYR) to chromosome 11, region q14----q21, by Southern blot analysis of somatic cell hybrid DNA and by in situ chromosomal hybridization. A second site of tyrosinase-related sequences was detected on the short arm of chromosome 11 near the centromere (p11.2----cen). Furthermore, we have confirmed the localization of the tyrosinase gene in the mouse at or near the c locus on chromosome 7. Comparison of the genetic maps of human chromosome 11 and mouse chromosome 7 leads to hypotheses regarding the evolution of human chromosome 11.
酪氨酸酶（单酚，L - 多巴：氧氧化还原酶；EC 1.14.18.1）催化酪氨酸转化为黑色素的前两步反应，黑色素是黑素细胞中发现的主要色素。某些形式的眼皮肤白化病，其特征是皮肤和眼睛中缺乏黑色素且酪氨酸酶活性不足，可能是由酪氨酸酶结构基因突变引起的。通过对体细胞杂种DNA进行Southern印迹分析以及原位染色体杂交，利用最近分离的人类酪氨酸酶cDNA将人类酪氨酸酶基因座（TYR）定位到11号染色体q14----q21区域。在11号染色体短臂靠近着丝粒处（p11.2----cen）检测到酪氨酸酶相关序列的第二个位点。此外，我们已证实酪氨酸酶基因在小鼠中位于7号染色体c基因座或其附近。对人类11号染色体和小鼠7号染色体遗传图谱的比较得出了关于人类11号染色体进化的假说。
