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Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India

  • Genetics: Original Article
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Abstract

We investigated the polymorphisms/mutations in synaptonemal complex central element protein 1 (SYCE1) and CDC25A mRNA-binding protein (BOLL) to test whether they increase the risk of azoospermia among Bengali-speaking men from West Bengal, India. Sanger’s dideoxy sequencing was used to genotype 140 azoospermic individuals who tested negative for Y chromosome microdeletion and 120 healthy controls. In both cases and controls, qRT-PCR was used to determine the expression summary of SYCE1 and BOLL. The perceived harmful consequences of identified mutations were inferred using in silico analysis. Suitable statistical approaches were used to conduct the association study. We found SYCE1 177insT (ON245141), 10650T > G (ON257012), 10093insT (ON257013), 10653insG (ON292504), rs10857748A > G, rs10857749G > A, and rs10857750T > A and BOLL 7708T > A (ON245141insT), rs72918816T > C, and rs700655C > T variants with the prevalence of azoospermia. Data from qRT-PCR and in silico studies projected that the variations would either disrupt the transcript’s natural splice junctions or cause probable damage to the structure of the genes’ proteins. SYCE1 gene variants [177insT (ON245141), 10650T > G (ON257012), 10093insT (ON257013), 10653insG (ON292504), rs10857748A > G, rs10857749G > A, rs10857750T > A] and BOLL gene variants [7708T > A (ON245141insT), rs72918816T > C, rs700655C > T] reduce the expression of respective gene in testicular tissue among azoospermic male as revealed from qRT-PCR result. These genetic variations could be utilized as screening tools for male infertility to determine the best course of treatment in routine ART practise.

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Data availability

The data that support the findings of this study are available on request from the corresponding author.

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Acknowledgements

We are thankful to all the participants who have provided us with their tissue samples along with their consent. We are also thankful to the entire medical faculties for their active cooperation during sample collection and data recording.

Funding

The project is financed by ICMR (Indian Council for Medical Research), New Delhi, India (Grant No: 5/10/FR/10/2015-RCH). Samudra Pal is thankful to CSIR (Council of Scientific and Industrial Research) for providing him fellowship.

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Authors and Affiliations

  1. Cytogenetics & Genomics Research Unit, Department of Zoology, University of Calcutta, Taraknath-Palit-Siksha-Prangan, Ballygunge Science College Campus, 35 Ballygunge Circular Road, Kolkata, West Bengal, 700019, India

    Samudra Pal, Pranab Paladhi, Saurav Dutta, Rupam Basu Mullick & Sujay Ghosh

  2. Institute of Reproductive Medicine (IRM), HB-36/A/3 1St Cross Rd Bidhannagar, Sector III, Bidhannagar, Kolkata, West Bengal, 700106, India

    Gunja Bose & Ratna Chattopadhyay

  3. Department of Zoology, Bijoy Krishna Girls’ College Affiliated to University of Calcutta), Howrah, West Bengal, India

    Papiya Ghosh

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  1. Samudra Pal
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Contributions

SG conceived and apprehended the project, designed the experiments, and wrote the paper. SP performed the major experiments, analysed data, reported the novel genetic variants, and wrote the paper. PG, SD, RBM, and PP helped in sample collection, experiments, and data analysis. RC and GB helped in the recruitment of infertile case samples as well as control samples, completed initial diagnosis, performed a seminogram to characterize the samples, and recorded the epidemiological data.

Corresponding author

Correspondence to Sujay Ghosh.

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Ethics Approval

The study design was reviewed and approved by the institutional ethics committee of the University of Calcutta, West Bengal, Kolkata, India (dated 04/12/2017; Approval No. CU/BIOETHICS/HUMAN/2306/3044). For working with human subjects, we followed the criteria outlined in the ‘Declaration of Helsinki’ and the Indian Council of Medical Research (ICMR).

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All the samples were collected after obtaining informed consent from the respective participants under the guidance of trained clinicians. At the laboratory, all records were preserved anonymously and with the utmost confidentiality.

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The authors declare no competing interests.

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Pal, S., Paladhi, P., Dutta, S. et al. Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India. Reprod. Sci. 31, 1069–1088 (2024). https://doi.org/10.1007/s43032-023-01393-8

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