Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
复制标题
D12S53E (Pmel 17) 的基因组组织和序列，小鼠银 (si) 基因座的人类同源物。
DOI：
10.1111/1523-1747.ep12326976
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
Spritz,RA
中科院分区：
文献类型：
--
作者：
Bailin,T;Lee,ST;Spritz,RA
我们确定了小鼠银（si）位点的人类同源基因D12S53E （Pmel 17）的DNA序列和基因组结构。D12S53E编码一种黑色素体基质蛋白，其表达与细胞黑色素含量密切相关，是细胞毒性T淋巴细胞识别的黑色素瘤常见肿瘤抗原。D12S53E可能是一些与已知白化病位点无关的人类皮肤白化病病例的候选基因。
We have determined the DNA sequence and genomic organization of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. D12S53E encodes a melanosomal matrix protein whose expression is closely correlated with cellular melanin content and which is a frequent melanoma tumor antigen recognized by cytotoxic T lymphocytes. D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci.