Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus.
Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus.
复制标题
小鼠红眼稀释基因座 p(un) 等位基因的分子特征。
DOI：
10.1111/j.1600-0749.1992.tb00548.x
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发表时间：
1992
期刊：
影响因子：
--
通讯作者：
Gondo,Y
中科院分区：
文献类型：
--
作者：
Brilliant,MH;Gondo,Y
The pink-eyed unstable mutation, pun, arose spontaneously in the inbred strain C57BL/6J, and is one of at least 13 alleles of the pinkeyed dilution locus, p, located on mouse chromosome 7. On a C57BL/6J background, mice carrying the wild-type allele have intensely pigmented coat and eyes, while mice homozygous for most recessive p alleles have dramatically reduced pigmentation in both their coat and eyes (1). The reduction in pigmentation is the result of a decrease in melanin, particularly eumelanin (2). Transplantation studies suggest that the defect is intrinsic to melanocytes (3). In addition to affecting pigmentation, several mutant p alleles are associated with other phenotypes 11). including neurological problems (p6H. p25H), cleft palate (~ cP). male sterility (p6H, p25H, pbS) and genetic instability (pun).There is considerable genetic evidence for widespread conservation of the pink-eyed dilution locus among mammals. Mice, deermice, rats, rabbits, and cats all have an equivalent locus defined by a near albino (but tyrosinase positive) phenotype which is part of a conserved linkage group in these species (4). On the basis of conservation of function, mutations in the human correlate of the mouse pink-eyed dilution gene may be the cause of some forms of inherited hypopigmentation, including tyrosinase positive oculocutaneous albinism or OCA type 11.
