Comprehensive Genomic Study in Patients with Idiopathic Azoospermia and Oligoasthenoteratozoospermia

Damyanova, Vera; Dimova, Ivanka; Savov, A.; Nesheva, Desislava; Hadjidekova, Savina; Rukova, Blaga; Jivkova, Ralitza; Nikolova, Veselina; Vatev, I; Toncheva, Draga

doi:10.5504/bbeq.2012.0092

Cited by 8 publications

(9 citation statements)

References 31 publications

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“…Other secreted proteins encoded by cluster 1 cells are EDDM3A and EDDM3B, which are poorly characterized, but also thought to play a key role in sperm maturation ( Kirchhoff et al, 1994 ). Of note, deletion of these genes has been implicated in some cases of idiopathic azoospermia ( Damyanova et al, 2013 ; Dong et al, 2015 ). Also notable in cluster 1 cells are DEGs from another gene family involved in the innate immune response, WFDC8, WFDC9, WFDC2, and WFDC11 which all map to chr20q13.12 and some of which are also androgen dependent.…”

Section: Discussionmentioning

confidence: 99%

An atlas of human proximal epididymis reveals cell-specific functions and distinct roles for CFTR

et al. 2020

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Spermatozoa released from the testis are unable to fertilize an egg without a coordinated process of maturation in the lumen of the epididymis. Relatively little is known about the molecular events that integrate this critical progression along the male genital ducts in man. Here, we use single cell RNA-sequencing to construct an atlas of the human proximal epididymis. We find that the CFTR, which is pivotal in normal epididymis fluid transport, is most abundant in surface epithelial cells in the efferent ducts and in rare clear cells in the caput epididymis, suggesting region-specific functional properties. We reveal transcriptional signatures for multiple cell clusters, which identify the individual roles of principal, apical, narrow, basal, clear, halo, and stromal cells in the epididymis. A marked cell type–specific distribution of function is seen along the duct with local specialization of individual cell types integrating processes of sperm maturation.

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Section: Discussionmentioning

confidence: 99%

An atlas of human proximal epididymis reveals cell-specific functions and distinct roles for CFTR

et al. 2020

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“…7468, 7477, and 7333, on 14q11.2 involved EDDM3A and EDDM3B. Damyanova et al (2013) reported that the loss of chr.14q11.2 can affect the proteins that are synthesized and secreted by epididymal epithelial cells that have been found to be up-regulated in the epididimis of non-obstructive azoospermia (NOA) men. In spite of the gains exhibited in our three patients, the CNVs may also affect the function of the genes and lead to azoospermia.…”

Section: Discussionmentioning

confidence: 99%

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Dong¹,

Pan²,

Wang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy number variations in order to provide a theoretical basis for further research. Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were enrolled. The subjects underwent high-throughput genome-wide sequencing to find copy number variants (CNVs), and the results were analyzed using the Database of Genomic Variants, Online Mendelian Inheritance in Man database, and PubMed. The results showed that 16 CNVs were detected in 11 patients with chromosome abnormalities, and 26 CNVs were found in 16 males with azoospermia. Our data showed CNV-involved loci including: three times on 11p11.12 and 14q11.2 and twice on 6p21.32, 13q11, 15q11.11, 16p12.2, 16042 Y. Dong et al.

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“…The FAM12A gene has been previously implicated in male infertility (Damyanova et al 2013). To date, this gene has not been reported to be involved in the pathogenesis of any psychiatric diseases.…”

Section: Discussionmentioning

confidence: 99%

TheCHRM3gene is implicated in abnormal thalamo-orbital frontal cortex functional connectivity in first-episode treatment-naive patients with schizophrenia

Wang

Cheng

et al. 2016

Psychol. Med.

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Overall, we identified the first evidence that the CHRM3 gene plays a role in abnormal thalamo-orbital frontal cortex functional connectivity in first-episode treatment-naive patients with schizophrenia. Identification of these genetic variants using neuroimaging genetics provides insights into the causes of variability in human brain development, and may help us determine the mechanisms of dysfunction in schizophrenia.

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Comprehensive Genomic Study in Patients with Idiopathic Azoospermia and Oligoasthenoteratozoospermia

Cited by 8 publications

References 31 publications

An atlas of human proximal epididymis reveals cell-specific functions and distinct roles for CFTR

An atlas of human proximal epididymis reveals cell-specific functions and distinct roles for CFTR

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

TheCHRM3gene is implicated in abnormal thalamo-orbital frontal cortex functional connectivity in first-episode treatment-naive patients with schizophrenia

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