A novel imprinted locus on bovine chromosome 18 homologous with human chromosome 16q24.1

IF 2.3 3区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Genetics and Genomics Pub Date : 2024-03-28 DOI:10.1007/s00438-024-02123-8

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Abstract

Genomic imprinting is an epigenetic regulation mechanism in mammals resulting in the parentally dependent monoallelic expression of genes. Imprinting disorders in humans are associated with several congenital syndromes and cancers and remain the focus of many medical studies. Cattle is a better model organism for investigating human embryo development than mice. Imprinted genes usually cluster on chromosomes and are regulated by different methylation regions (DMRs) located in imprinting control regions that control gene expression in cis. There is an imprinted locus on human chromosome 16q24.1 associated with congenital lethal developmental lung disease in newborns. However, genomic imprinting on bovine chromosome 18, which is homologous with human chromosome 16 has not been systematically studied. The aim of this study was to analyze the allelic expressions of eight genes (CDH13, ATP2C2, TLDC1, COTL1, CRISPLD2, ZDHHC7, KIAA0513, and GSE1) on bovine chromosome 18 and to search the DMRs associated gene allelic expression. Three transcript variants of the ZDHHC7 gene (X1, X2, and X5) showed maternal imprinting in bovine placentas. In addition, the monoallelic expression of X2 and X5 was tissue-specific. Five transcripts of the KIAA0513 gene showed tissue- and isoform-specific monoallelic expression. The CDH13, ATP2C2, and TLDC1 genes exhibited tissue-specific imprinting, however, COTL1, CRISLPLD2, and GSE1 escaped imprinting. Four DMRs, established after fertilization, were found in this region. Two DMRs were located between the ZDHHC7 and KIAA0513 genes, and two were in exon 1 of the CDH13 and ATP2C2 genes, respectively. The results from this study support future studies on the molecular mechanism to regulate the imprinting of candidate genes on bovine chromosome 18.

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牛第 18 号染色体上与人类第 16q24.1 号染色体同源的新印迹基因座

摘要基因组印记是哺乳动物的一种表观遗传调控机制，导致基因的单拷贝表达依赖于亲代。人类的印记紊乱与多种先天综合症和癌症有关，一直是许多医学研究的重点。与小鼠相比，牛是研究人类胚胎发育的更好的模式生物。印记基因通常聚集在染色体上，受位于印记控制区的不同甲基化区域（DMRs）的调控，顺式控制基因表达。人类染色体 16q24.1 上的一个印记基因座与新生儿先天性致死性肺部发育疾病有关。然而，与人类 16 号染色体同源的牛 18 号染色体上的基因组印迹尚未得到系统研究。本研究旨在分析牛第18号染色体上8个基因（CDH13、ATP2C2、TLDC1、COTL1、CRISPLD2、ZDHHC7、KIAA0513和GSE1）的等位基因表达，并寻找与基因等位基因表达相关的DMRs。ZDHHC7基因的三个转录本变体（X1、X2和X5）在牛胎盘中表现出母体印记。此外，X2 和 X5 的单等位基因表达具有组织特异性。KIAA0513 基因的五个转录本显示出组织和同工酶特异性的单倍表达。CDH13、ATP2C2和TLDC1基因表现出组织特异性印迹，但COTL1、CRISLPLD2和GSE1则逃脱了印迹。在该区域发现了四个受精后建立的 DMR。两个DMR位于ZDHHC7和KIAA0513基因之间，两个分别位于CDH13和ATP2C2基因的外显子1。本研究的结果为今后研究牛18号染色体上候选基因印记的分子调控机制提供了支持。

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来源期刊

Molecular Genetics and Genomics 生物-生化与分子生物学

CiteScore

5.10

自引率

3.20%

发文量

134

审稿时长

1 months

期刊介绍： Molecular Genetics and Genomics (MGG) publishes peer-reviewed articles covering all areas of genetics and genomics. Any approach to the study of genes and genomes is considered, be it experimental, theoretical or synthetic. MGG publishes research on all organisms that is of broad interest to those working in the fields of genetics, genomics, biology, medicine and biotechnology. The journal investigates a broad range of topics, including these from recent issues: mechanisms for extending longevity in a variety of organisms; screening of yeast metal homeostasis genes involved in mitochondrial functions; molecular mapping of cultivar-specific avirulence genes in the rice blast fungus and more.