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Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky–Pudlak syndrome type 4 gene
Genes to Cells ( IF 1.3 ) Pub Date : 2020-11-04 , DOI: 10.1111/gtc.12818 Toshihiko Fukuzawa 1
Genes to Cells ( IF 1.3 ) Pub Date : 2020-11-04 , DOI: 10.1111/gtc.12818 Toshihiko Fukuzawa 1
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The periodic albino mutant of Xenopus laevis is a recessive mutant, in which reduced amounts of melanin appear in the retinal pigment epithelium (RPE) and in melanophores at the late embryonic stage, after which both RPE and melanophores gradually depigment. Three types of pigment cells (melanophores, iridophores and xanthophores) have been reported to be affected in this albino. However, the causative gene of the periodic albinism remains unknown. Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder that affects humans and mice, which is caused by defective biogenesis of lysosome‐related organelles (LROs). Two subgenomes (L and S) are present in the allotetraploid frog X. laevis. Comparison of genes between the chromosomes 1L and 1S revealed that the HPS type 4 (hps4) gene was present only in chromosome 1L. In the albino mutant, a 1.9 kb genomic deletion in the hps4.L gene including exons 7 and 8 caused a premature stop codon to create a truncated Hps4 protein. Injection of wild‐type hps4.L mRNA into mutant embryos rescued the albino phenotype. These findings indicate that hps4 is a causative gene for the periodic albinism in X. laevis. The phenotype of this mutant should be reassessed from the perspective of LRO biogenesis.
中文翻译：
一种广泛使用的非洲爪蟾白化突变体的周期性白化病，该突变是由赫曼斯基-普德勒克综合征4型基因的两个外显子缺失引起的
Xenopus laevis的周期性白化变种是隐性突变，在胚胎后期，视网膜色素上皮（RPE）和黑素细胞中黑色素的含量降低，此后RPE和黑素细胞逐渐脱色。据报道，这种白化病会影响三种类型的色素细胞（黑素细胞，虹膜细胞和黄体细胞）。但是，周期性白化病的致病基因仍然未知。Hermansky–Pudlak综合征（HPS）是一种常染色体隐性遗传疾病，会影响人类和小鼠，这是由溶酶体相关细胞器（LRO）的生物发生缺陷引起的。异源四倍体青蛙X. laevis中存在两个亚基因组（L和S）。比较1L和1S染色体上的基因，发现HPS 4型（hps4）基因仅存在于1L染色体中。在白变种突变体中，hps4.L基因（包括外显子7和8）中1.9 kb的基因组缺失导致过早的终止密码子产生了截短的Hps4蛋白。将野生型hps4.L mRNA注入突变型胚胎中可以挽救白化病的表型。这些发现表明hps4是X. laevis中周期性白化病的致病基因。应从LRO生物发生的角度重新评估此突变体的表型。
更新日期：2021-01-11
中文翻译：
一种广泛使用的非洲爪蟾白化突变体的周期性白化病，该突变是由赫曼斯基-普德勒克综合征4型基因的两个外显子缺失引起的
Xenopus laevis的周期性白化变种是隐性突变，在胚胎后期，视网膜色素上皮（RPE）和黑素细胞中黑色素的含量降低，此后RPE和黑素细胞逐渐脱色。据报道，这种白化病会影响三种类型的色素细胞（黑素细胞，虹膜细胞和黄体细胞）。但是，周期性白化病的致病基因仍然未知。Hermansky–Pudlak综合征（HPS）是一种常染色体隐性遗传疾病，会影响人类和小鼠，这是由溶酶体相关细胞器（LRO）的生物发生缺陷引起的。异源四倍体青蛙X. laevis中存在两个亚基因组（L和S）。比较1L和1S染色体上的基因，发现HPS 4型（hps4）基因仅存在于1L染色体中。在白变种突变体中，hps4.L基因（包括外显子7和8）中1.9 kb的基因组缺失导致过早的终止密码子产生了截短的Hps4蛋白。将野生型hps4.L mRNA注入突变型胚胎中可以挽救白化病的表型。这些发现表明hps4是X. laevis中周期性白化病的致病基因。应从LRO生物发生的角度重新评估此突变体的表型。
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