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家禽两个多巴氧化酶阳性黑素细胞突变体的基因作用与功能

The gene action and function of two dopa oxidase positive melanocyte mutants of the fowl.

作者信息

Brumbaugh J A, Lee K W

出版信息

Genetics. 1975 Oct;81(2):333-47. doi: 10.1093/genetics/81.2.333.

Abstract

Ultrastructural and autoradiographic analysis revealed the developmental genetic differences between the dopa oxidase positive pk and I mutations of the fowl. The differences were revealed by the results of five measurements involving homozygous mutant melanocytes, heterozygous melanocytes, and standard melanocytes at each of the loci. The measurements were: ultrastructural comparisons of melanosomes in pigmented epithelial (PE) and neural crest derived (NC) melanocytes, the number of 3H-dopa and 3H-leucine grains/mu2 of melanosome, the 3H-dopa/3H-leucine ratio, and the percentage of cytoplasmic 3H-leucine grains that were melanosomal. The pk mutation altered both PE and NC melanosomes. +/pk melanocytes were characterized by suppressed 3H-dopa/mu2 and 3H-dopa/3H-leucine values. +/pk cells, however, had the same percentage of melanosomal 3H-leucine grains as the "pk" standard. The I mutation altered only NC melanosomes. +/I melanocytes were characterized by 3H-dopa/mu2 and 3H-dopa/3H-leucine values similar to the "I" standard. +/I cells had a lower percentage of melanosomal 3H-leucine grains that the "I" standard, however. These data suggest that pk is a structural mutation affecting melanin binding to the premelanosome, while I seems to be a control gene mutation partially suppressing the production of premelanosomal components in NC melanocytes.

摘要

超微结构和放射自显影分析揭示了家禽中多巴氧化酶阳性的pk和I突变之间的发育遗传差异。这些差异通过五项测量结果得以揭示,这些测量涉及每个位点的纯合突变黑素细胞、杂合黑素细胞和标准黑素细胞。测量内容包括:色素上皮(PE)和神经嵴衍生(NC)黑素细胞中黑素小体的超微结构比较、每平方微米黑素小体上3H-多巴和3H-亮氨酸颗粒的数量、3H-多巴/3H-亮氨酸比率以及细胞质中3H-亮氨酸颗粒中黑素小体的百分比。pk突变改变了PE和NC黑素小体。+/pk黑素细胞的特征是3H-多巴/平方微米和3H-多巴/3H-亮氨酸值受到抑制。然而,+/pk细胞的黑素小体3H-亮氨酸颗粒百分比与“pk”标准相同。I突变仅改变了NC黑素小体。+/I黑素细胞的特征是3H-多巴/平方微米和3H-多巴/3H-亮氨酸值与“I”标准相似。然而,+/I细胞的黑素小体3H-亮氨酸颗粒百分比低于“I”标准。这些数据表明,pk是一种影响黑色素与前黑素小体结合的结构突变,而I似乎是一种控制基因突变,部分抑制了NC黑素细胞中前黑素小体成分的产生。

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