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具有暹罗猫色素模式相似性的狒狒携带酪氨酸酶基因突变的错义突变。

Baboon bearing resemblance in pigmentation pattern to Siamese cat carries a missense mutation in the tyrosinase gene.

机构信息

Primate Research Institute, Kyoto University, Inuyama City 484-8506, Japan.

Wanpark Kochi Animal Land, Kochi City 781-8010, Japan.

出版信息

Genome. 2020 May;63(5):275-279. doi: 10.1139/gen-2020-0003. Epub 2020 Feb 13.

Abstract

An infant hamadryas baboon exhibiting an albino phenotype-white body hair and red eyes-was born to parents with wild-type body color. Pigmentation on some parts of its body surfaced during childhood and progressed with age. This baboon in adulthood has gray hair on parts of its body, such as the tail, distal portion of the legs, and face, with the remainder being white. This pigmentation pattern resembles that of the Siamese cat and the Himalayan variants of the mouse and the mink. The distinguishing phenotypes in these animals are known to be caused by a temperature-sensitive activity of tyrosinase, an enzyme essential for biosynthesis of melanin. We sequenced all the five exons of the tyrosinase () gene of this albino baboon, which were amplified by PCR, and found a base substitution leading to alteration of the 365th amino acid from Ala to Thr. Tyrosinase requires copper as a cofactor for its enzyme function. It has two copper-binding sites, the second of which contains His residues in positions 363 and 367 that are critical to its function. Thus, p.(Ala365Thr) due to a mutation in the gene is a likely candidate for the cause of the albino phenotype in this baboon.

摘要

一只表现白化病表型(白色体毛和红色眼睛)的幼年阿拉伯狒狒出生于其父母均为野生型毛色的个体。其部分身体的色素沉着在童年时期出现,并随着年龄的增长而发展。这只成年狒狒的身体部分有灰色的毛发,如尾巴、腿部远端和脸部,其余部分为白色。这种色素沉着模式类似于暹罗猫和喜马拉雅变种鼠和貂。这些动物的区别性表型已知是由酪氨酸酶的温度敏感活性引起的,酪氨酸酶是黑色素生物合成所必需的酶。我们对这只白化狒狒的酪氨酸酶()基因的所有五个外显子进行了测序,这些外显子通过 PCR 扩增,发现了一个碱基替换,导致第 365 位氨基酸从丙氨酸变为苏氨酸。酪氨酸酶需要铜作为其酶功能的辅助因子。它有两个铜结合位点,第二个位点包含 363 位和 367 位的组氨酸残基,这对其功能至关重要。因此,由于基因中的突变导致的 p.(Ala365Thr)可能是导致这只狒狒白化病表型的原因。

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