Exon skipping creates novel splice variants of DMC1 gene in ruminants

Ahlawat, Sonika; Chopra, Meenu; Jaiswal, Latika; Sharma, Rekha; Arora, Reena; Brahma, Biswajit; Lal, Shardul Vikram; De, Sachinandan

doi:10.1016/j.mcp.2016.03.001

Cited by 2 publications

(1 citation statement)

References 25 publications

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“…In our previous study, an A3SS transcript and a retained intron transcript of Sycp3 gene were identified in the testes from 60-d and 180-d Large White pigs [5]. Disrupted meiotic cDNA1 (Dmc1) is required for double-strand break repair and plays a pivotal role during meiotic homologous recombination [30]. An exon skipped transcript Dmc1-d is expressed in both male and female germ cells, which indicates a novel role in meiosis [31].…”

Section: Alternative Splicing Of Key Genes Involved In Spermatogenesismentioning

confidence: 95%

The Function of Pre-mRNA Alternative Splicing in Mammal Spermatogenesis

Song¹,

Wang²,

Chen³

et al. 2020

Int. J. Biol. Sci.

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Alternative pre-mRNA splicing plays important roles in co-transcriptional and post-transcriptional regulation of gene expression functioned during many developmental processes, such as spermatogenesis. The studies focusing on alternative splicing on spermatogenesis supported the notion that the development of testis is regulated by a higher level of alternative splicing than other tissues. Here, we aim to review the mechanisms underlying alternative splicing, particularly the splicing variants functioned in the process of spermatogenesis and the male infertility. There are five points regarding the alternative splicing including ⅰ) a brief introduction of alternative pre-mRNA splicing; ⅱ) the alternative splicing events in spermatogenesis-associated genes enriched in different stages of spermatogenesis; ⅲ) the mechanisms of alternative splicing regulation, such as splicing factors and m 6 A demethylation; ⅳ) the splice site recognition and alternative splicing, including the production and degradation of abnormal transcripts caused by gene variations and nonsense-mediated mRNA decay, respectively; ⅴ) abnormal alternative splicing correlated with male infertility. Taking together, this review highlights the impacts of alternative splicing and splicing variants in mammal spermatogenesis and provides new insights of the potential application of the alternative splicing into the therapy of male infertility.

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Section: Alternative Splicing Of Key Genes Involved In Spermatogenesismentioning

confidence: 95%

The Function of Pre-mRNA Alternative Splicing in Mammal Spermatogenesis

Song¹,

Wang²,

Chen³

et al. 2020

Int. J. Biol. Sci.

View full text Add to dashboard Cite

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mRNA-Seq of testis and liver tissues reveals a testis-specific gene and alternative splicing associated with hybrid male sterility in dzo

Hong,

Wu,

Chen

et al. 2024

Journal of Animal Science

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Alternative splicing (AS) plays an important role in the co-transcription and post-transcriptional regulation of gene expression during mammalian spermatogenesis. The dzo is the male F1 offspring of an interspecific hybrid between a domestic bull (Bos taurus ♂) and a yak (Bos grunniens ♀) which exhibits male sterility. This study aimed to identify the testis-specific genes and AS associated with hybrid male sterility in dzo. The iDEP90 program and rMATS software were used to identify the differentially expressed genes (DEG) and differential alternative splicing genes (DSG) based on RNA-seq data from the liver (n=9) and testis (n=6) tissues of domestic cattle, yak, and dzo. Splicing factors (SF) were obtained from the AmiGO2 and the NCBI databases, and Pearson correlation analysis was performed on the differentially expressed SFs and DSGs. We focused on the testis-specific DEGs and DSGs between dzo and cattle and yak. Among the top 3000 genes with the most significant variations between these 15 samples, a large number of genes showed testis-specific expression involved with spermatogenesis. Cluster analysis showed that the expression levels of these testis-specific genes were dysregulated during mitosis with a burst downregulation during the pachynema spermatocyte stage. The occurrence of AS events in the testis was about 2.5 fold greater than in the liver, with exon skipping being the major AS event (81.89~82.73%). A total of 74 DSGs were specifically expressed in the testis and were significantly enriched during meiosis I, synapsis, and in the piRNA biosynthesis pathways. Notably, STAG3 and DDX4 were of the exon skipping type, and DMC1 was a mutually exclusive exon. A total of 36 SFs were significantly different in dzo testis, compared with cattle and yak. DDX4, SUGP1, and EFTUD2 were potential SFs leading to abnormal AS of testis-specific genes in dzo. These results show that AS of testis-specific genes can affect synapsis and the piRNA biosynthetic processes in dzo, which may be important factors associated with hybrid male sterility in dzo.

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Exon skipping creates novel splice variants of DMC1 gene in ruminants

Cited by 2 publications

References 25 publications

The Function of Pre-mRNA Alternative Splicing in Mammal Spermatogenesis

The Function of Pre-mRNA Alternative Splicing in Mammal Spermatogenesis

mRNA-Seq of testis and liver tissues reveals a testis-specific gene and alternative splicing associated with hybrid male sterility in dzo

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