Human Y Chromosome Function in Male Germ Cell Development

Vogt, Peter H.

doi:10.1016/s1566-3116(08)60019-5

Cited by 23 publications

(15 citation statements)

References 141 publications

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“…Type II has some acrosomal activity covering a canonical nucleus surrounded by large cytoplasmic droplets [170]. Elevated chromosome aneuplodies were found in roundheaded sperms with FISH using probes for chromosomes 13,15,18,21, X, and Y [171,172], although this could not be confirmed by other authors [173,174]. However, in all cases an increased damage of the sperm chromatin structure has been reported, indicating a high mutational load in the paternal DNA structure of these patients.…”

Section: Male Infertility Syndromes With Poly-genic Inheritance Patternmentioning

confidence: 99%

“…(2)". They have an unbalanced karyotype because the distal part of the euchromatic long Y arm (Yq11) is lost [15]. The other part of the Y chromosome including the SRY Gen locus is translocated to an autosome (most frequently to the short arm of one of the acrocentric chromosomes 13, 15, or 22).…”

Section: Chromosome Aberrations Which Cause Male Infertilitymentioning

confidence: 99%

“…(3A)". Their deletion interrupted spermatogenesis at three different phases [15]. A complete Sertoli-cell-onlysyndrome (SCO) is observed in patients with deletion of AZFa, i.e.…”

Section: The Azf Locus In Yq11mentioning

confidence: 99%

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Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

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Genetic lesions causing human male infertility are manifold. Besides gross chromosomal aneuploidies and rearrangements, microdeletions and single gene defects can interfere with male fertility. Male fertility is not only dependent on genes controlling the male germ line but also on genes of the networks functional for male gonad development and male somatic development, respectively. It is popular to unravel these netweorks with mouse gene knock-out mutants displaying reproductive defects. However, substantial arguments can be given for more functional studies directly on the human genes, because multiple reproductive proteins evolve quickly most likely for adopting to the specific needs of the species class. Prominent examples are mutations of the FSHR gene causing different pathologies in mouse and human and the DAZ gene family not found in the mouse genome but in the human genome with an essential male fertility function. Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8-GREAT, LHR, POLG). Then some human genes are described well recognised as functional in spermatogenesis and male fertility although gene specific mutations causing infertility were not yet identified (CREM, CDY1, DAZL1, PHGPx, PRM-1, PRM-2). They are designated as "spermatogenesis phase marker" or "male fertility index" genes, because they are useful tools for diagnosing the patient´s´ spermatogenesis disruption phase and for predicting the presence and quality of his mature sperms. Current therapeutic protocols for human male infertility do usually not cure the specific gene defect but try to bypass it using Artificial Reproductive Technology (ART). Putative imprinting defects in the early embryo probably associated with the used ART protocol and an increase of chromosome abnormalities in the ART offspring now strongly asks for a significant improvement of this outcome requesting urgently more basic research on the genes functioning in the human male germ line and during early human embryogenesis.

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Section: Male Infertility Syndromes With Poly-genic Inheritance Patternmentioning

confidence: 99%

Section: Chromosome Aberrations Which Cause Male Infertilitymentioning

confidence: 99%

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Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Vogt¹

2004

CPD

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“…Indeed, in all cases where a testicular biopsy was evaluated in this patient group spermatogenesis was blocked before or at meiosis (for review see : Vogt, 1996). Since the nature and extent of the X-Y pairing structure at the meiotic prophase temporarily involves the entire euchromatic Y long arm (Ashley, 1984;Chandley et al, 1984) premeiotic 'X-Y pairing sites' in Yq11 are suggested.…”

Section: Mapping Of Azf Deletions In Yq11mentioning

confidence: 99%

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Vogt

2005

Human Reproduction Update

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120

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AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe oligozoospermia. Consequently, it can be assumed that these deletions remove Y chromosomal genes required for spermatogenesis. However, these 'classical' or 'complete' AZF deletions, AZFa, AZFb and AZFc, represent only a subset of rearrangements in Yq11. With the benefit of the Y chromosome sequence, more rearrangements (deletions, duplications, inversions) inside and outside the classical AZF deletion intervals have been elucidated and intra-chromosomal non-allelic homologous recombinations (NAHRs) of repetitive sequence blocks have been identified as their major cause. These include duplications in AZFa, AZFb and AZFc and the partial AZFb and AZFc deletions of which some were summarized under the pseudonym 'gr/gr' deletions. At least some of these rearrangements are associated with distinct Y chromosomal haplogroups and are present with similar frequencies in fertile and infertile men. This suggests a functional redundancy of the AZFb/AZFc multi-copy genes. Alternatively, the functional contribution(s) of these genes to human spermatogenesis might be different in men of different Y haplogroups. That raises the question whether, the frequency of Y haplogroups with different AZF gene contents in distinct human populations leads to a male fertility status that varies between populations or whether, the presence of the multiple Y haplogroups implies a balancing selection via genomic deletion/amplification mechanisms.

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“…Bereits auf Chromosomenebene wird eine keimbahnspezifische Strukturdynamik beobachtet (Speed et al 1993) mit einem deutlich zeitlich regulierten Paarungsgradienten des Y Chromosoms zum X Chromosom in primären Spermatozytenkernen (Solari 1980). Daneben scheint der AZF (AZoospermie-Faktor) Locus in Yq11 (AZFa, AZFb, AZFc-Region) über mindestens drei Gene verschiedene Phasen der Human-Spermatogenese zu regulieren (Vogt 1996 . Da die histologischen Befunde bei diesen Patienten bei gleicher Mikrodeletion vergleichbar waren, aber unterschiedlich bei verschiedenen Mikrodeletio-nen, so wie ihre molekulare Ausdehnung, gemessen in Intervallabschnitten, identisch war, wurden die gefundenen Deletionsbereiche als Hinweis für die Existenz von zumindest drei verschiedenen AZF Regionen (AZFa, AZFb, AZFc) in Yq11 bewertet .…”

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Molekulare Gendiagnostik bei idiopathischer Oligo- und Azoospermie: Die Diagnostik des AZF-Locus in Yq11

Vogt

1998

Reproduktionsmedizin

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Human Y Chromosome Function in Male Germ Cell Development

Cited by 23 publications

References 141 publications

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

Molecular Genetic of Human Male Infertility: From Genes to New Therapeutic Perspectives

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Molekulare Gendiagnostik bei idiopathischer Oligo- und Azoospermie: Die Diagnostik des AZF-Locus in Yq11

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