Novel biallelic mutations in <i>TTC29</i> cause asthenoteratospermia and male infertility

Dai, Siyu; Liang, Yan; Liu, Mohan; Yang, Yanting; Liu, Hongqian; Shen, Ying

doi:10.1002/mgg3.2078

Cited by 5 publications

(1 citation statement)

References 70 publications

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“…The genes involved in downregulation were identified as CFAP70 , TTC29 , CCDC40 , DNAAF4 , SYCE3 , STK36 , SPI1 , and EMX2 . These genes were found to be enriched in various pathways related to sex development, sperm growth, and sperm motility, such as organelle assembly, cilia movement, the development of the urogenital system, sperm production, and sperm deformity [ 47 , 48 ]. Significantly, various studies have shown that these genes contribute to reproductive development.…”

Section: Discussionmentioning

confidence: 99%

Integrated miRNA and mRNA Sequencing Reveals the Sterility Mechanism in Hybrid Yellow Catfish Resulting from Pelteobagrus fulvidraco (♀) × Pelteobagrus vachelli (♂)

Li,

Yang,

et al. 2024

Animals

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The hybrid yellow catfish exhibits advantages over pure yellow catfish in terms of fast growth, fast development, a high feeding rate, and strong immunity; additionally, it is almost sterile, thus ensuring the conservation of the genetic stock of fish populations. To investigate the sterility mechanism in hybrid yellow catfish (P. fulvidraco (♀) × P. vachelli (♂)), the mRNA and miRNA of the gonads of P. fulvidraco, P. vachelli, and a hybrid yellow catfish were analyzed to characterize the differentially expressed genes; this was carried out to help establish gene expression datasets to assist in the further determination of the mechanisms of genetic sterility in hybrid yellow catfish. In total, 1709 DEGs were identified between the hybrid and two pure yellow catfishes. A KEGG pathway analysis indicated that several genes related to reproductive functions were upregulated, including those involved in the cell cycle, progesterone-mediated oocyte maturation, and oocyte meiosis, and genes associated with ECM–receptor interaction were downregulated. The spermatogenesis-related GO genes CFAP70, RSPH6A, and TSGA10 were identified as being downregulated DEGs in the hybrid yellow catfish. Sixty-three DEmiRNAs were identified between the hybrid and the two pure yellow catfish species. The upregulated DEmiRNAs ipu-miR-194a and ipu-miR-499 were found to target the spermatogenesis-related genes CFAP70 and RSPH6A, respectively, playing a negative regulatory role, which may underscore the miRNA–mRNA regulatory mechanism of sterility in hybrid yellow catfish. The differential expression of ipu-miR-196d, ipu-miR-125b, and ipu-miR-150 and their target genes spidr, cep85, and kcnn4, implicated in reproductive processes, was verified via qRT-PCR, consistent with the transcriptome sequencing expression trends. This study provides deep insights into the mechanism of hybrid sterility in vertebrate groups, thereby contributing to achieving a better understanding and management of fish conservation related to hybrid sterility.

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Section: Discussionmentioning

confidence: 99%

Integrated miRNA and mRNA Sequencing Reveals the Sterility Mechanism in Hybrid Yellow Catfish Resulting from Pelteobagrus fulvidraco (♀) × Pelteobagrus vachelli (♂)

Li,

Yang,

et al. 2024

Animals

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Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility

Dai

Liang

Liu

et al. 2022

Molec Gen & Gen Med

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SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility

Sethi,

Mehta,

Andrabi

et al. 2024

Reprod. Sci.

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Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 5 publications

References 70 publications

Integrated miRNA and mRNA Sequencing Reveals the Sterility Mechanism in Hybrid Yellow Catfish Resulting from Pelteobagrus fulvidraco (♀) × Pelteobagrus vachelli (♂)

Integrated miRNA and mRNA Sequencing Reveals the Sterility Mechanism in Hybrid Yellow Catfish Resulting from Pelteobagrus fulvidraco (♀) × Pelteobagrus vachelli (♂)

Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility

SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility

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