Expression of CDY1 may identify complete spermatogenesis

Kleiman, Sandra E.; Lagziel, Ayala; Yogev, Leah; Botchan, Amnon; Paz, Gedalia; Yavetz, Haim

doi:10.1016/s0015-0282(00)01639-3

Cited by 42 publications

(62 citation statements)

References 30 publications

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“…Such "spermatogenesis phase marker genes" are e.g. DAZL1 for diagnosing the presence of premeiotic germ cells [197], CREM for diagnosing the expression of postmeiotic spermatids [198] and CDY1 for diagnosing the putative presence of mature spermatozoa in the patient´s testis tissue [199]. Although formal proof is still missing that these genes are functional required in human spermatogenesis (no gene mutations associated with male infertility are known), the transcriptional and translational activities of these key genes are also most valuable for an evaluation of the residual functional capacity in the patient´s germ line.…”

Section: Human Spermatogenesis Phase Marker Genesmentioning

confidence: 99%

“…Besides the expression of the protamine-2 gene [216] also expression of the CDY1 gene [199] is a useful molecular marker to predict the presence of testicular sperm in patients with nonobstructive azoospermia. The CDY1 gene locus was mapped in the AZFc deletion interval of the human Y chromosome (Table 1A).…”

Section: Cdy1 Expression Is Diagnostic For the Presence Of Mature Spermsmentioning

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: Human Spermatogenesis Phase Marker Genesmentioning

confidence: 99%

Section: Cdy1 Expression Is Diagnostic For the Presence Of Mature Spermsmentioning

confidence: 99%

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

Vogt¹

2004

CPD

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“…Recently, modern molecular biology and cell genetics studies have also confirmed the existence of AZF in the q11 region on the long arm of the Y chromosome (Kleiman et al, 2001). A study (Kleiman et al, 2002) suggested that, 50% of patients with AZFc deletions could recover fertilization following testis puncture and intracytoplasmic sperm injection (ICSI).…”

Section: Introductionmentioning

confidence: 99%

Correlation between Y chromosome microdeletion and male infertility

Liu¹,

Hu²,

Guo³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polymerase chain reactions amplification and gel electrophoresis. The results demonstrated that 28 individuals had varying degrees of microdeletion in the AZF region (16.90%); 12 out of the 76 males with azoospermia and 16 out of the 90 males with oligospermia had AZF microdeletion. AZF microdeletion was not observed in any of the healthy controls. In addition, 53.60% of the AZF microdeletions occurred in the AZFc region. It can be concluded that AZF microdeletion on the long arm of the Y chromosome can result in male spermatogenesis dysfunction. Detection of AZF microdeletion can provide a theoretical basis for genetic counseling, as well as improve the diagnosis and treatment of this disease.

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“…Next, we investigated whether or not we could detect differences in RNA expression of the identified candidate genes in testicular tissue from patients with MA and negative Y microdeletion testing. Other groups have successfully used this approach for investigation of some Y-chromosome genes in patients with NOA, [11][12][13][14] though prior studies have not focused on MA.…”

Section: Introductionmentioning

confidence: 99%

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Stahl¹,

Mielnik²,

Barbieri³

et al. 2012

Asian J Androl

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Maturation arrest (MA) refers to failure of germ cell development leading to clinical nonobstructive azoospermia. Although the azoospermic factor (AZF) region of the human Y chromosome is clearly implicated in some cases, thus far very little is known about which individual Y-chromosome genes are important for complete male germ cell development. We sought to identify single genes on the Y chromosome that may be implicated in the pathogenesis of nonobstructive azoospermia associated with MA in the American population. Genotype-phenotype analysis of 132 men with Y-chromosome microdeletions was performed. Protein-coding genes associated with MA were identified by visual analysis of a genotype-phenotype map. Genes associated with MA were selected as those genes within a segment of the Y chromosome that, when completely or partially deleted, were always associated with MA and absence of retrievable testicular sperm. Expression of each identified gene transcript was then measured with quantitative RT-PCR in testicular tissue from separate cohorts of patients with idiopathic MA and obstructive azoospermia. Ten candidate genes for association with MA were identified within an 8.4-Mb segment of the Y chromosome overlapping the AZFb region. CDY2 and HSFY were the only identified genes for which differences in expression were observed between the MA and obstructive azoospermia cohorts. Men with obstructive azoospermia had 12-fold higher relative expression of CDY2 transcript (1.3360.40 vs. 0.1160.04; P50.0003) and 16-fold higher expression of HSFY transcript (0.7860.32 vs. 0.0560.02; P50.0005) compared to men with MA. CDY2 and HSFY were also underexpressed in patients with Sertoli cell only syndrome. These data indicate that CDY2 and HSFY are located within a segment of the Y chromosome that is important for sperm maturation, and are underexpressed in testicular tissue derived from men with MA. These observations suggest that impairments in CDY2 or HSFY expression could be implicated in the pathogenesis of MA.

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Expression of CDY1 may identify complete spermatogenesis

Cited by 42 publications

References 30 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

Correlation between Y chromosome microdeletion and male infertility

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

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