IRIFIV Research

Mutations in the protamine locus: Association with spermatogenic failure?

A Fertility Research Publication from IRIFIV – Centre de Fertilité Casablanca, Maroc

Authors

Noureddine Louanjli, L. Imken, H. Rouba, B. El Houate, N. Louanjli, A. Barakat, A. Chafik, K. McElreavey

Journal / Date

Introduction & Clinical Relevance:

This significant genetic study published in Molecular Human Reproduction and co-authored by Dr. Noureddine Louanjli of IRIFIV Fertility Center investigates a fundamental cause of male infertility at the molecular level. The research focuses on the protamine gene locus—a critical region responsible for producing proteins that compact and protect sperm DNA. Mutations here can disrupt normal sperm development (spermatogenesis), leading to unexplained low sperm counts (oligozoospermia) or absence of sperm (azoospermia).
The clinical relevance of this work is profound for diagnosing idiopathic male infertility, particularly within the Moroccan population. For men with otherwise unexplained sperm production failure, standard semen analysis offers no cause. This study provides a genetic screening target, identifying novel mutations in the PRM1, PRM2, and PRM3 genes found exclusively in infertile men. While these mutations are infrequent, their discovery is a crucial step toward personalized diagnosis. For patients at IRIFIV, this type of research translates into more precise counseling and a deeper understanding of their condition. It exemplifies how IRIFIV's scientific endeavors contribute directly to advancing the diagnostic toolkit for male infertility, moving beyond phenotype to genotype, and offering answers where there previously were none.

Abstract:

The protamine locus consists of a 28.5 kb region with a linear array of the protamine (PRM)1, PRM2, PRM3 and transition nuclear protein (TNP)2 genes. Several studies indicate an abnormal expression pattern of protamine genes associated with male infertility, although the molecular mechanism underlying this observation is unclear. Here, we determined the spectrum of DNA variants present in all four genes in men with unexplained infertility compared with an ancestry-matched fertile/normospermic population. A total of 160 control individuals and at least 125 infertile men with either idiopathic azoospermia or oligozoospermia were sequenced for the open reading frame of PRM1, PRM2, PRM3 and TNP2 genes. All individuals carried an apparently intact Y chromosome. Of the 28 variants identified, 21 were previously described in the literature. The novel variants that were observed only in the infertile cohort included the SNP c.65G>A mutation which resulted in an amino acid change at the codon 22 (p. Ser22Asn) in the PRM1 gene, a mutation in the promoter region of PRM2 (−67C>T) and a nonsense mutation in the PRM3 gene. These data are consistent with that of previous studies which have indicated that mutations in the protamine locus may be an infrequent cause of male infertility.

Keywords:

Protamine gene mutation, male infertility genetics, spermatogenic failure, azoospermia, oligozoospermia, Moroccan population genetics, PRM1 PRM2 PRM3, sperm DNA packaging, genetic diagnosis infertility, IRIFIV research, Dr. Noureddine Louanjli

IRIFIV Research

Mutations in the protamine locus: Association with spermatogenic failure?

A Fertility Research Publication from IRIFIV – Centre de Fertilité Casablanca, Maroc

Authors

Noureddine Louanjli, L. Imken, H. Rouba, B. El Houate, N. Louanjli, A. Barakat, A. Chafik, K. McElreavey

Journal / Date

Introduction & Clinical Relevance:

This significant genetic study published in Molecular Human Reproduction and co-authored by Dr. Noureddine Louanjli of IRIFIV Fertility Center investigates a fundamental cause of male infertility at the molecular level. The research focuses on the protamine gene locus—a critical region responsible for producing proteins that compact and protect sperm DNA. Mutations here can disrupt normal sperm development (spermatogenesis), leading to unexplained low sperm counts (oligozoospermia) or absence of sperm (azoospermia).
The clinical relevance of this work is profound for diagnosing idiopathic male infertility, particularly within the Moroccan population. For men with otherwise unexplained sperm production failure, standard semen analysis offers no cause. This study provides a genetic screening target, identifying novel mutations in the PRM1, PRM2, and PRM3 genes found exclusively in infertile men. While these mutations are infrequent, their discovery is a crucial step toward personalized diagnosis. For patients at IRIFIV, this type of research translates into more precise counseling and a deeper understanding of their condition. It exemplifies how IRIFIV's scientific endeavors contribute directly to advancing the diagnostic toolkit for male infertility, moving beyond phenotype to genotype, and offering answers where there previously were none.

Abstract:

The protamine locus consists of a 28.5 kb region with a linear array of the protamine (PRM)1, PRM2, PRM3 and transition nuclear protein (TNP)2 genes. Several studies indicate an abnormal expression pattern of protamine genes associated with male infertility, although the molecular mechanism underlying this observation is unclear. Here, we determined the spectrum of DNA variants present in all four genes in men with unexplained infertility compared with an ancestry-matched fertile/normospermic population. A total of 160 control individuals and at least 125 infertile men with either idiopathic azoospermia or oligozoospermia were sequenced for the open reading frame of PRM1, PRM2, PRM3 and TNP2 genes. All individuals carried an apparently intact Y chromosome. Of the 28 variants identified, 21 were previously described in the literature. The novel variants that were observed only in the infertile cohort included the SNP c.65G>A mutation which resulted in an amino acid change at the codon 22 (p. Ser22Asn) in the PRM1 gene, a mutation in the promoter region of PRM2 (−67C>T) and a nonsense mutation in the PRM3 gene. These data are consistent with that of previous studies which have indicated that mutations in the protamine locus may be an infrequent cause of male infertility.

Keywords:

Protamine gene mutation, male infertility genetics, spermatogenic failure, azoospermia, oligozoospermia, Moroccan population genetics, PRM1 PRM2 PRM3, sperm DNA packaging, genetic diagnosis infertility, IRIFIV research, Dr. Noureddine Louanjli

Le Département de Recherche Scientifique d’IRIFIV Centre de Fertilité à Casablanca (Maroc) est dédié à l’avancement de la médecine de la reproduction, de la FIV et des approches diagnostiques innovantes. Les travaux de recherche menés par l’équipe IRIFIV contribuent au développement de nouvelles stratégies cliniques, biologiques et génétiques visant à améliorer la prise en charge de l’infertilité et des pathologies gynécologiques complexes.

À propos du département de recherche scientifique de l’IRIFIV

Le Département de Recherche Scientifique d’IRIFIV Centre de Fertilité à Casablanca (Maroc) est dédié à l’avancement de la médecine de la reproduction, de la FIV et des approches diagnostiques innovantes. Les travaux de recherche menés par l’équipe IRIFIV contribuent au développement de nouvelles stratégies cliniques, biologiques et génétiques visant à améliorer la prise en charge de l’infertilité et des pathologies gynécologiques complexes.

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07/14/2009
Mutations in the protamine locus: Association with spermatogenic failure?
L. Imken, H. Rouba, B. El Houate, N. Louanjli, A. Barakat, A. Chafik, K. McElreavey

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Fondé en 1992, avec plus de 34 ans d’expérience et des milliers de bébés nés, IRIFIV Casablanca est le premier centre structuré marocain de procréation médicalement assistée et l’un des centres de fertilité et FIV les plus reconnus à Casablanca et au Maroc. La clinique est spécialisée dans tous les cas d’infertilité, y compris les cas complexes. Nous utilisons des technologies et équipements de dernière génération, dont certains uniques au Maroc. IRIFIV et le laboratoire Labomac constituent un terrain de stage pratique en FIV dans le cadre du Diplôme Universitaire de Biologie et Génétique de la Reproduction de l’Université Mohammed VI des Sciences de la Santé, et sont actifs en recherche, formation médicale et collaborations internationales.

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IRIFIV Research

Mutations in the protamine locus: Association with spermatogenic failure?

A Fertility Research Publication from IRIFIV – Centre de Fertilité Casablanca, Maroc

Authors

Noureddine Louanjli, L. Imken, H. Rouba, B. El Houate, N. Louanjli, A. Barakat, A. Chafik, K. McElreavey

Journal / Date

Molecular Human Reproduction

07/14/2009

Introduction & Clinical Relevance:

Abstract:

Keywords:

Protamine gene mutation, male infertility genetics, spermatogenic failure, azoospermia, oligozoospermia, Moroccan population genetics, PRM1 PRM2 PRM3, sperm DNA packaging, genetic diagnosis infertility, IRIFIV research, Dr. Noureddine Louanjli

IRIFIV Research

Mutations in the protamine locus: Association with spermatogenic failure?

A Fertility Research Publication from IRIFIV – Centre de Fertilité Casablanca, Maroc

Authors

Noureddine Louanjli, L. Imken, H. Rouba, B. El Houate, N. Louanjli, A. Barakat, A. Chafik, K. McElreavey

Journal / Date

Molecular Human Reproduction

07/14/2009

Introduction & Clinical Relevance:

Abstract:

Keywords:

Protamine gene mutation, male infertility genetics, spermatogenic failure, azoospermia, oligozoospermia, Moroccan population genetics, PRM1 PRM2 PRM3, sperm DNA packaging, genetic diagnosis infertility, IRIFIV research, Dr. Noureddine Louanjli

À propos du département de recherche scientifique de l’IRIFIV

À propos du département de recherche scientifique de l’IRIFIV

Vous aimerez aussi

IRIFIV Research

Acomprehensive review about sperm-oocyte interactions and key activation factors of fertilization in mammals

IRIFIV Research

Epidemiological, Clinical, and Biomarker Profile of Male Infertility in Morocco: A Retrospective Single-Center Study of 1399 Cases

IRIFIV Research

Mutations in the protamine locus: Association with spermatogenic failure?

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