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Lack of association of KATNAL1 gene sequence variants and azoospermia in humans

  • Genetics
  • Published:
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Abstract

Purpose

A recent experiment indicated that a loss of function mutation in the murine Katnal1 gene resulted in male factor infertility due to premature exfoliation of spermatids. This study investigated the relevance of this gene to infertility in humans.

Methods

Multiple methods of genetic analysis were employed to investigate whether mutations in human KATNAL1 have a causative role in male infertility. This was a genetic association study, which included DNA samples from 105 men with non-obstructive azoospermia (NOA) and 242 anonymous sperm donor controls. 28 commercially available TaqMan SNP assays were used to haplotype samples from both groups and genetically tag regions of interest across the entire gene. AmpliSeq primers were then designed for identified regions so that targeted next-generation sequencing (NGS) could be used to identify causative variants.

Results

Four SNPs in the 3’UTR demonstrated a putative association with NOA. The AmpliSeq primers designed for the 3’UTR provided 83 % coverage of the 7,202 basepairs within the regions of interest. Variant sites were analyzed against genetic models to identify sequence polymorphisms which associated with NOA. No variants met standard criteria for significance when tested between the groups.

Conclusions

This study suggests a lack of association of KATNAL1 gene sequence variants and azoospermia in humans.

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Authors and Affiliations

  1. Department of Microbiology and Molecular Genetics, UMDNJ-Robert Wood Johnson Medical School, Piscataway, NJ, 08854-5635, USA

    Anastasia M. Fedick, Nathan R. Treff, Deanne Taylor & Richard T. Scott Jr

  2. Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, 07920, USA

    Anastasia M. Fedick, Kyle Eckert, Katharine Thompson, Eric J. Forman, Batsal Devkota, Nathan R. Treff, Deanne Taylor & Richard T. Scott Jr

  3. Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert-Wood Johnson Medical School, New Brunswick, NJ, 08901, USA

    Eric J. Forman, Nathan R. Treff, Deanne Taylor & Richard T. Scott Jr

Authors
  1. Anastasia M. Fedick
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  2. Kyle Eckert
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  3. Katharine Thompson
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  4. Eric J. Forman
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  7. Deanne Taylor
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Corresponding author

Correspondence to Anastasia M. Fedick.

Additional information

Capsule Investigation of the KATNAL1 gene for an association with the human phenotype non-obstructive azoospermia using genetic association and next generation sequencing yielded no significant findings.

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Fedick, A.M., Eckert, K., Thompson, K. et al. Lack of association of KATNAL1 gene sequence variants and azoospermia in humans. J Assist Reprod Genet 31, 1065–1071 (2014). https://doi.org/10.1007/s10815-014-0269-1

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  • DOI: https://doi.org/10.1007/s10815-014-0269-1

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