Selected genetic factors associated with male infertility

Huynh, Trieu; Mollard, Richard Anthony; Trounson, Alan

doi:10.1093/humupd/8.2.183

Cited by 128 publications

(90 citation statements)

References 118 publications

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“…There is a concern that these genetic abnormalities can be transmitted to the male progeny, who may subsequently have a more severe phenotype of infertility. The incidence of chromosome factors in infertile males ranges between 2 and 8% increased to 15% in azoospermic males in recent years [51][52][53][54]. FSH is an important hormone which is required for initiation of spermatogenesis is requisite to monitor in infertile men from the point of therapeutics and clinical intervention.…”

Section: Molecular Insight Into Male Infertilitymentioning

confidence: 99%

Male Infertility; Evidences, Risk Factors, Causes, Diagnosis and Management in Human

Sharma¹

2017

Ann Clin Lab Res

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Infertility has become ominous problem. On an average, about 10% of all couples face difficulty in starting a family and this creates a feeling of great personal failure, particularly in India where religious and socio-economic traditions have made it almost imperative for everyone to have children. A significant association had been found between impaired semen quality including sperm count, motility and morphology. In this review, the various contributory etiological factors i.e., exposure to heavy metals, pesticides, industrial chemicals, endocrine factors, genetics causes and modern life style had been discussed which have a serious impact on male infertility. In this article we analyzed data from different sources and present evidences of the possible etiology and risk factors for male infertility. There is a need to emerge at the indiscriminate use and disposal of environmental chemicals. Especially pesticides and industrial chemicals as the chemicals enter the food chain, surface and ground water which had potential for exposure during the critical period of development further avoiding tobacco smoking, excessive alcoholism, excessive heat exposure to the testes can help in improving the semen quality.

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Section: Molecular Insight Into Male Infertilitymentioning

confidence: 99%

Male Infertility; Evidences, Risk Factors, Causes, Diagnosis and Management in Human

Sharma¹

2017

Ann Clin Lab Res

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“…Anatomical defects, endocrinopathies, immunological problems, and environmental exposures are significant causes of infertility. Although several infertility disorders are associated with defined genetic syndromes, including cystic fibrosis and Turner syndrome (23,24), nearly 25% of clinical infertility cases are idiopathic. Genetic etiologies are thought to underlie many of these unrecognized pathologies.…”

Section: Discussionmentioning

confidence: 99%

Azoospermia in mice with targeted disruption of theBrek/Lmtk2(brain-enriched kinase/lemur tyrosine kinase 2) gene

Kawa¹,

Ito

Toyama

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

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Brek/Lmtk2 (brain-enriched kinase/lemur tyrosine kinase 2) is a member of the Aatyk family of kinases that comprises Aatyk1, Brek/Lmtk2/Aatyk2, and Aatyk3. Although several potential roles have been proposed for Brek and other Aatyk family members, the physiological functions of these kinases remain unclear. Here, we report that Brek ؊/؊ male mice are infertile, with azoospermia. Detailed histological analysis revealed that Brek ؊/؊ germ cells differentiated normally until the round-spermatid stage, but failed to undergo the normal change in morphology to become elongated spermatids. Testicular somatic cells appeared normal in these mice. Expression of Brek in testis was restricted to the germ cells, suggesting that the maturations of germ cells in Brek ؊/؊ mice are affected in a cell-autonomous manner. On the basis of these findings, we concluded that Brek is essential for a late stage of spermatogenesis. Further clarification of the mechanism by which Brek regulates spermatogenesis may help identify new targets for reproductive contraceptives and treatments against infertility.AATYK ͉ BREK ͉ infertility ͉ LMTK2 ͉ spermatogenesis S permatogenesis, the process by which primordial germ cells generate sperm, is a complex process that includes mitotic division of spermatogonia, meiotic division of spermatocytes to generate haploid cells called spermatids, and differentiation of the spermatids into sperm cells. The last maturation step in which haploid spermatids undergo a complex restructuring program is called spermiogenesis. Spermiogenesis begins with formation of the acrosome from Golgi-derived vesicles, followed by formation of a flagellum, condensation of the nucleus with DNA compaction, and jettison of the cytoplasm. The resulting mature sperm consists of a head with a nucleus and a tail and enters the lumen of the seminiferous tubules. Spermatozoa that differentiate in the testis mature further during the passage through the epididymal duct to acquire functions essential for fertilization.Protein-phosphorylation events play pivotal roles in regulating intracellular signals in response to a wide variety of stimuli. There is accumulating evidence that protein kinases, such as c-Kit, play critical and distinct roles in spermatogenesis (1). Brek (brain-enriched kinase) is a member of the protein kinase subfamily that comprises Aatyk1, Brek/Lmtk2/Aatyk2, and Aatyk3. This kinase subfamily was recently identified through a genome database search for human tyrosine kinases and was tentatively named the Aatyk (apoptosis-associated tyrosine kinase) subfamily (2). Generation of a phyletic tree of known tyrosine and Ser/Thr kinases revealed that Aatyk family kinases represent a previously uncharacterized category of kinases that reside between tyrosine kinases and Ser/Thr kinases. The primary structures of Aatyk kinases show slightly higher homology to tyrosine kinases than to Ser/Thr kinases, but we previously showed that the Aatyk kinases are Ser/Thr kinases and not tyrosine kinases (3). Although Brek is also called A...

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“…DBY is more frequently deleted than USP9Y and its expression is also specific for testes. However, the exact function of these genes still remains unknown (Huynh et al 2002).…”

Section: Azf Deletionsmentioning

confidence: 99%

“…Apart from these in ~30% of male infertility cases, that are referred to as idiopathic, genetic abnormality at molecular level is suspected (Huynh et al 2002). Most of the genes associated with male infertility lie in the male-specific region (MSY) of Y chromosome (Singh et al 2005a).…”

Section: Introductionmentioning

confidence: 99%

Comparative Study of AZF Deletions and TSPY Gene Variation in Czech and Indian Infertile Men

Singh

Vrtěl

Vodička

et al. 2006

International Journal of Human Genetics

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The human Y chromosome harbours genes that are essential for spermatogenesis. Most of these genes lie in the male-specific region (MSY) of Y chromosome. Microdeletions of AZF within the MSY have been reported in infertile men. Widely different frequencies of such deletions (0-55%) have been reported from different populations. TSPY is another gene located in the MSY region that plays a significant role in spermatogenesis. It is a multi-copy gene but the role its gene copy numbers play in infertility is not yet evaluated. The present study was undertaken on infertile men from Czech Republic and India to ascertain the relative and comparative role of AZF deletions and of TSPY copy numbers.

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Selected genetic factors associated with male infertility

Cited by 128 publications

References 118 publications

Male Infertility; Evidences, Risk Factors, Causes, Diagnosis and Management in Human

Male Infertility; Evidences, Risk Factors, Causes, Diagnosis and Management in Human

Azoospermia in mice with targeted disruption of theBrek/Lmtk2(brain-enriched kinase/lemur tyrosine kinase 2) gene

Comparative Study of AZF Deletions and TSPY Gene Variation in Czech and Indian Infertile Men

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