Elsevier

Fertility and Sterility

Volume 86, Issue 5, November 2006, Pages 1416-1422
Fertility and Sterility

Male factor
Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility

https://doi.org/10.1016/j.fertnstert.2006.04.033Get rights and content
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Objective

To screen populations of fertile men, severely infertile men, and infertility patients with aberrations in the protamine-1-to-protamine-2 ratio (P1/P2) for clinically relevant alterations in the P1, P2, transition protein 1 (TP1), and transition protein 2 (TP2) genes.

Design

Prospective case-control study.

Setting

University-based infertility clinic.

Patient(s)

Ninety-six fertile men, 96 severely infertile men, and 96 infertility patients with aberrations in the sperm P1/P2 ratio.

Intervention(s)

Sperm nuclear protein extraction, gel electrophoresis, and densitometry to evaluate the P1/P2 ratios of infertility patients. DNA extraction, polymerase chain reaction (PCR), and gene sequencing to screen the nuclear protein genes.

Main Outcome Measure(s)

Sperm P1/P2 ratios and single nucleotide polymorphisms (SNPs) in the sperm nuclear protein genes (P1, P2, TP1, and TP2).

Result(s)

Fifteen SNPs were identified in the nuclear protein genes, 12 of which were previously unreported. Five variants were identified that resulted in amino acid changes (one in P1, one in TP1, and three in TP2). The frequency of the 15 SNPs was similar in protamine-deficient patients, severely infertile patients, and fertile controls.

Conclusion(s)

A number of SNPs are present in the testis-specific nuclear protein genes. However, the gene variants do not appear to underlie protamine deficiency and severe male infertility.

Key Words

Chromatin
gene
polymorphisms
protamine
sperm
transition proteins

Cited by (0)

Control samples obtained from the Utah Genetic Reference Project (UGRP) were collected with support from a Public Health Services research grant to the Huntsman General Clinical Research Center, number M01-RR00064, from the National Center for Research Resources. The UGRP was also supported by generous gifts from the W.M. Keck and Delores Dore Eccles foundations.