Uncovering codon usage patterns during murine embryogenesis and tissue-specific developmental diseases.

IF 2.8 3区 生物学 Q2 GENETICS & HEREDITY
Frontiers in Genetics Pub Date : 2025-05-26 eCollection Date: 2025-01-01 DOI:10.3389/fgene.2025.1554773
Sarah E Fumagalli, Sean Smith, Brian Lin, Rahul Paul, Collin Campbell, Luis Santana-Quintero, Anton Golikov, Juan Ibla, Haim Bar, Anton A Komar, Ryan C Hunt, Michael DiCuccio, Chava Kimchi-Sarfaty
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引用次数: 0

Abstract

Introduction: Mouse models share significant genetic similarities with humans and have expanded our understanding of how embryonic tissue-specific genes influence disease states. By improved analyses of temporal, transcriptional data from these models, we can capture unique tissue codon usage patterns and determine how deviations from these patterns can influence developmental disorders.

Methods: We analyzed transcriptomic-weighted data from four mouse strains across three different germ layer tissues (liver, heart, and eye) and through embryonic stages. Applying a multifaceted approach, we calculated relative synonymous codon usage, reduced the dimensionality, and employed machine learning clustering techniques.

Results and discussion: These techniques identified relative synonymous codon usage differences/similarities among strains and deviations in codon usage patterns between healthy and disease-linked genes. Original transcriptomic mouse data and RefSeq gene sequences can be found at the associated Mouse Embryo CoCoPUTs (codon and codon pair usage tables) website. Future studies can leverage this resource to uncover further insights into the dynamics of embryonic development and the corresponding codon usage biases that are paramount to understanding disease processes of embryologic origin.

揭示密码子在小鼠胚胎发生和组织特异性发育疾病中的使用模式。
小鼠模型与人类具有显著的遗传相似性,并扩展了我们对胚胎组织特异性基因如何影响疾病状态的理解。通过对这些模型的时间和转录数据的改进分析,我们可以捕获独特的组织密码子使用模式,并确定偏离这些模式如何影响发育障碍。方法:我们分析了四种小鼠品系在三种不同胚层组织(肝脏、心脏和眼睛)和胚胎阶段的转录组加权数据。采用多方面的方法,我们计算了相对同义密码子的使用情况,降低了维数,并采用了机器学习聚类技术。结果和讨论:这些技术确定了菌株之间相对同义密码子使用的差异/相似性以及健康基因和疾病相关基因之间密码子使用模式的偏差。原始的小鼠转录组数据和RefSeq基因序列可以在相关的小鼠胚胎CoCoPUTs(密码子和密码子对使用表)网站上找到。未来的研究可以利用这一资源来进一步了解胚胎发育的动力学和相应的密码子使用偏差,这对理解胚胎起源的疾病过程至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Frontiers in Genetics
Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
5.50
自引率
8.10%
发文量
3491
审稿时长
14 weeks
期刊介绍: Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.
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