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Deciphering Sperm-Carried IGF2 Transcript Variants: Cloning, qPCR Detection, and Variant Analysis.

Rossella Cannarella1,2, Mangesh Suryavanshi3, Aldo E Calogero1

  • 1Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.

Endocrinology
|February 14, 2025
PubMed
Summary

This study identified 14 unique insulin-like growth factor 2 (IGF2) gene variants in human sperm, revealing differences compared to granulosa cells and offering new insights into male fertility and embryo development.

Keywords:
IGF2 transcript variantsIGF2Sanger sequencingcloninggranulosa cellsspermatozoa

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Area of Science:

  • Reproductive Biology
  • Molecular Genetics
  • Genomics

Background:

  • The insulin-like growth factor 2 (IGF2) gene is crucial for early embryo development.
  • Paternally imprinted IGF2 is normally inactive in oocytes.
  • The specific IGF2 variants in human sperm versus granulosa cells (GCs) are not well understood.

Purpose of the Study:

  • To determine the quantity and types of IGF2 transcripts in human spermatozoa.
  • To compare IGF2 variants between sperm and GCs.

Main Methods:

  • Sperm and GC samples were collected from healthy donors and infertile patients.
  • RNA was extracted, converted to cDNA, and amplified using PCR.
  • Sanger sequencing and quantitative PCR (qPCR) were used to identify and quantify IGF2 variants, including single nucleotide polymorphisms (SNPs).

Main Results:

  • Fourteen distinct IGF2 variants (deletions, insertions, SNPs) were identified in sperm, altering amino acid sequences.
  • Two variants were common to both sperm and GCs.
  • Twelve variants were specific to either sperm or GCs, with some forming novel phylogenetic clusters.

Conclusions:

  • This research expands the known repertoire of IGF2 variants.
  • Significant differences exist in IGF2 transcripts between human spermatozoa and GCs.
  • This is the first study to analyze IGF2 variants in sperm from fertile men, opening avenues for research into their role in embryogenesis.