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酵母作为一种工具,用于理解与人类疾病相关的基因突变的意义。

Yeast as a Tool to Understand the Significance of Human Disease-Associated Gene Variants.

机构信息

Yeast Genetics and Genomics Group, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology CNR, Via Moruzzi 1, 56125 Pisa, Italy.

出版信息

Genes (Basel). 2021 Aug 24;12(9):1303. doi: 10.3390/genes12091303.

DOI:10.3390/genes12091303
PMID:34573285
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8465565/
Abstract

At present, the great challenge in human genetics is to provide significance to the growing amount of human disease-associated gene variants identified by next generation DNA sequencing technologies. Increasing evidences suggest that model organisms are of pivotal importance to addressing this issue. Due to its genetic tractability, the yeast represents a valuable model organism for understanding human genetic variability. In the present review, we show how has been used to study variants of genes involved in different diseases and in different pathways, highlighting the versatility of this model organism.

摘要

目前,人类遗传学的巨大挑战是为下一代 DNA 测序技术所鉴定的不断增加的与人类疾病相关的基因变异赋予意义。越来越多的证据表明,模式生物对于解决这个问题至关重要。由于其遗传的可操作性,酵母代表了理解人类遗传变异性的一个有价值的模式生物。在本综述中,我们展示了酵母如何被用于研究不同疾病和不同途径中涉及的基因的变异,突出了这种模式生物的多功能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aed9/8465565/ff4f9da35b20/genes-12-01303-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aed9/8465565/9d104376df77/genes-12-01303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aed9/8465565/ff4f9da35b20/genes-12-01303-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aed9/8465565/9d104376df77/genes-12-01303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aed9/8465565/ff4f9da35b20/genes-12-01303-g002.jpg

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