New insights into the genetics of spermatogenic failure: a review of the literature

Cannarella, Rossella; Condorelli, Rosita A.; Duca, Ylenia; Vignera, Sandro La; Calogero, Aldo E.

doi:10.1007/s00439-019-01974-1

Cited by 73 publications

(43 citation statements)

References 126 publications

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“…They later develop into A-aligned (Aal) spermatogonia by sequential mitotic divisions. SSCs, Ap, and Aal are undifferentiated spermatogonia and differ from differentiated ones in the expression of self-renewal and proliferating-associated genes (e.g., Grfα1, Ret, Nanos, Plzf, Id4, Pou5f1, Foxo1, Mir-17-92, Lin28a, Pax7, Neurog3, Sox3, Taf4b, Plap, Ap2y, and Sall4) [8,9].…”

Section: Physiology Of Spermatogenesismentioning

confidence: 99%

“…These cells are characterized by a downregulation of self-renewal genes and an upregulation of those associated with differentiation (e.g., Sohlh1, Sohlh2, Dnmt1, c-kit, etc.) [9]. Subsequently, type B spermatogonia generate preleptotene spermatocytes, which require close contact with Sertoli cells and the integrity of the epithelium to be transported across the BTB to differentiate into leptotene, zygotene, and pachytene spermatocytes and enter the ad luminal compartment [7].…”

Section: Physiology Of Spermatogenesismentioning

confidence: 99%

“…During prophase I, the first step of meiosis, double-strand breaks (DSBs) (leptotene), pairing of homologue chromosome (zygotene), and crossing over (CO) (pachytene) take place, all relying on fine molecular mechanisms. Accordingly, several proteins with enzymatic activity are expressed in this step (such as PLK-4) to ensure proper chromosome segregation, but also SPO11β, RPA1, RPA2, RPA3, MEIOB, RAD51, SPATA22, MSH4, MSH5, TEX11, TEX15, SYCE, HSF2, HEI10, RNF212, and CNTD1, required for proper CO recombination and DSBs repair [9].…”

Section: Physiology Of Spermatogenesismentioning

confidence: 99%

“…Mainly, these are genes involved in pivotal steps of spermatogenesis, such as germ cell proliferation, meiosis, and spermiogenesis (Table 1). Their exploration may increase the diagnostic yield in patients with an apparently idiopathic abnormal sperm count, motility, and/or morphology [6,9].…”

Section: Sperm Genomementioning

confidence: 99%

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Molecular Biology of Spermatogenesis: Novel Targets of Apparently Idiopathic Male Infertility

Cannarella

Condorelli

Mongioì

et al. 2020

IJMS

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Male infertility affects half of infertile couples and, currently, a relevant percentage of cases of male infertility is considered as idiopathic. Although the male contribution to human fertilization has traditionally been restricted to sperm DNA, current evidence suggest that a relevant number of sperm transcripts and proteins are involved in acrosome reactions, sperm-oocyte fusion and, once released into the oocyte, embryo growth and development. The aim of this review is to provide updated and comprehensive insight into the molecular biology of spermatogenesis, including evidence on spermatogenetic failure and underlining the role of the sperm-carried molecular factors involved in oocyte fertilization and embryo growth. This represents the first step in the identification of new possible diagnostic and, possibly, therapeutic markers in the field of apparently idiopathic male infertility.

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Section: Physiology Of Spermatogenesismentioning

confidence: 99%

Section: Physiology Of Spermatogenesismentioning

confidence: 99%

Section: Physiology Of Spermatogenesismentioning

confidence: 99%

Section: Sperm Genomementioning

confidence: 99%

See 2 more Smart Citations

Molecular Biology of Spermatogenesis: Novel Targets of Apparently Idiopathic Male Infertility

Cannarella

Condorelli

Mongioì

et al. 2020

IJMS

Self Cite

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“…These abnormalities are largely related to the loss of expression or abnormal expression of genes regulating testicular spermatogenesis. Animal models and genetic screening studies have confirmed genetic factors to be the common cause of spermatogenesis disorders (Cannarella, Condorelli, Duca, Vignera, & Calogero, ). For example, pathogenic variations in FANCM (Kasak et al, ), MEIOB (Gershoni et al, ), RNF212 , STAG3 (Riera‐Escamilla et al, ), TEX11 , TEX12 , TEX14 , and TEX15 (Boroujeni et al, ) genes may cause nonobstructive azoospermia in male humans.…”

Section: Discussionmentioning

confidence: 94%

Novel IFT140 variants cause spermatogenic dysfunction in humans

Wang

Sha

Wang

et al. 2019

Molec Gen & Gen Med

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Background The intraflagellar transport protein 140 homolog (IFT140) is involved in the process of intraflagellar transport (IFT), a process that is essential for the formation and maintenance of most eukaryotic cilia and flagella. Variants IFT140 have been reported to account for ciliopathy but association with male fertility has never been described in humans. Here we report the identification of two novel variants of IFT140 which caused spermatogenic dysfunction and male infertility. Methods Whole‐exome sequencing was performed in a 27‐year‐old infertile man presented with severe oligozoospermia, asthenozoospermia, and teratozoospermia (OAT) without other physical abnormality. Sanger sequencing was used to verify gene variants in the patient, his healthy brother, and their parents. Morphology and protein expression in the patient's sperm were examined by transmission electron microscopy (TEM) and immunofluorescence staining. Function of gene variants was predicted by online databases. Results Compound heterozygous variants of IFT140: exon16: c.1837G > A: p.Asp613Asn and exon31: c.4247G > A: p.Ser1416Asn were identified in the patient, both of which showed autosomal recessive inheritance in his family, and had extremely low allele frequency in the population. Morphological abnormalities of the head, nucleus, and tails and the absence of IFT140 from the neck and mid‐piece of the patient's spermatozoa were observed. Mutation Taster database predicted a high probability of damage‐causing by both variations. Conclusion This study for the first time reported IFT140 variants that cause infertility in humans.

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Genetic disorders and male infertility

Kuroda

Usui

Sanjo

et al. 2020

Reprod Medicine & Biology

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Infertility is defined as the inability to become pregnant after at least 1 year of regular intercourse without contraception. It is reported that approximately 8%-12% of couples in reproductive age are infertile, and male factors contribute to the infertility of those couples in approximately 50% of cases. 1 Azoospermia has been reported in approximately 1% of all men and in 10%-15% of infertile men. 2 According to this percentage, male infertility and azoospermia could be currently considered a common disease. Nonetheless, the majority of male infertilities are categorized as idiopathic, representing about 50% of all cases, and their causes are unknown. 3 Thus, one of the most important tasks for physicians and researchers engaged in reproductive medicine is to classify idiopathic male infertility based

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New insights into the genetics of spermatogenic failure: a review of the literature

Cited by 73 publications

References 126 publications

Molecular Biology of Spermatogenesis: Novel Targets of Apparently Idiopathic Male Infertility

Molecular Biology of Spermatogenesis: Novel Targets of Apparently Idiopathic Male Infertility

Novel IFT140 variants cause spermatogenic dysfunction in humans

Genetic disorders and male infertility

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