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是叙利亚仓鼠中 Cryptochrome 1 的一个无效突变。

is a null mutation of Cryptochrome 1 in Syrian hamsters.

机构信息

Divisions of Human Genetics and Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.

Department of Pharmacology and Systems Physiology, University of Cincinnati College of Medicine, Cincinnati, OH 45229.

出版信息

Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2123560119. doi: 10.1073/pnas.2123560119. Epub 2022 Apr 26.

Abstract

The duper mutation is a recessive mutation that shortens the period length of the circadian rhythm in Syrian hamsters. These animals show a large phase shift when responding to light pulses. Limited genetic resources for the Syrian hamster (Mesocricetus auratus) presented a major obstacle to cloning duper. This caused the duper mutation to remain unknown for over a decade. In this study, we did a de novo genome assembly of Syrian hamsters with long-read sequencing data from two different platforms, Pacific Biosciences and Oxford Nanopore Technologies. Using two distinct ecotypes and a fast homozygosity mapping strategy, we identified duper as an early nonsense allele of Cryptochrome 1 (Cry1) leading to a short, unstable protein. CRY1 is known as a highly conserved component of the repressive limb of the core circadian clock. The genome assembly and other genomic datasets generated in this study will facilitate the use of the Syrian hamster in biomedical research.

摘要

双重突变是一种隐性突变,可缩短叙利亚仓鼠昼夜节律的周期长度。这些动物在响应光脉冲时表现出较大的相位移动。叙利亚仓鼠(Mesocricetus auratus)的有限遗传资源对克隆双重突变造成了重大障碍。这导致双重突变在十多年来一直不为人知。在这项研究中,我们使用来自两个不同平台(太平洋生物科学和牛津纳米孔技术)的长读测序数据对叙利亚仓鼠进行从头基因组组装。使用两个不同的生态型和快速纯合性映射策略,我们将双重突变鉴定为 Cryptochrome 1(Cry1)的早期无义等位基因,导致短而不稳定的蛋白质。CRY1 是核心昼夜节律钟抑制臂中高度保守的组成部分。本研究中生成的基因组组装和其他基因组数据集将促进叙利亚仓鼠在生物医学研究中的应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6234/9170138/9ca7f504d561/pnas.2123560119fig01.jpg

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