Genetic Variation in the Testis-Specific HASPIN Gene Encoding a Serine/Threonine Protein Kinase in Infertile Japanese Males

Tanaka, Hiromitsu; Tsujimura, Akira; Miyagawa, Yasushi; Oh, Dakyo; Choi, Da-Min; Wada, Morimasa; Nishimura, Hiromi; Nishimune, Yoshitake

doi:10.4236/asm.2016.63003

Cited by 4 publications

(8 citation statements)

References 22 publications

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“…We assessed the prevalence of single nucleotide polymorphisms (SNPs) in germ cell-specific genes by the direct sequencing of PCRamplified DNA from male patients undergoing fertility evaluation [10]. Current data indicate that some SNPs related with male infertility exist in germ cell-specific genes [11,12]; however, many of the SNPs in these genes are not associated with male infertility [13][14][15].…”

Section: Resultsmentioning

confidence: 99%

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Genetic Variation in the Testis-Specific Poly(A) Polymerase Beta (PAPOLB) Gene Among Japanese Males

Tanaka¹,

Tsujimura²,

Miyagawa³

2015

TORSJ

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Abstract:The testis-specific poly(A) polymerase beta (PAPOLB) gene was first identified as the intronless gene TPAP in mice. In TPAP-deficient mice, spermiogenesis is arrested due to altered post-transcriptional gene regulation, including translational activation via the cytoplasmic polyadenylation of mRNAs. To investigate the possible association between variations in PAPOLB and impaired spermatogenesis in Japanese males, we screened for genetic variations in PAPOLB using DNA from 282 sterile male patients and 96 proven-fertile male volunteers using direct sequencing methods on blood samples. Seven single nucleotide polymorphisms in the coding sequence and one DNA insertion in the 5' untranslated region of PAPOLB were found. These genetic variations were not present at statistically significant levels; however, the results of this study may be useful in future large-scale analyses of the association between PAPOLB and male infertility.

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Section: Resultsmentioning

confidence: 99%

“…To date, SNP analyses have been conducted for several intronless genes with a function similar to that of TPAP/PAPOLB (Table 2) [11][12][13][14][15] …”

Section: Genetic Variation In the Testis-specific Poly(a) Polymerasementioning

confidence: 99%

Genetic Variation in the Testis-Specific Poly(A) Polymerase Beta (PAPOLB) Gene Among Japanese Males

Tanaka¹,

Tsujimura²,

Miyagawa³

2015

TORSJ

Self Cite

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“…In high‐throughput sperm proteomics using normozoospermic samples with different in vitro fertilization outcomes (pregnancy vs no pregnancy), human CPα3 was identified as one of the less abundant proteins in sperm . However, evidence from single nucleotide morphism analysis of the cpα3 gene between fertile and infertile men indicates that the cpα3 gene may not be a genetic factor for male infertility . In mammals, the cpα3 gene is located back‐to‐back with the phospholipase C isoform ζ (PLCζ) gene .…”

Section: Association Of Testis‐specific Actin Cp and Male Infertilitymentioning

confidence: 99%

“…96 However, evidence from single nucleotide morphism analysis of the cpα3 gene between fertile and infertile men indicates that the cpα3 gene may not be a genetic factor for male infertility. 97 In mammals, the cpα3 gene is located back-to-back with the phospholipase C isoform ζ (PLCζ) gene. 98 PLCζ is considered as a nominee for sperm-associated oocytes activating factors and to induce triggering of Ca2 + oscillations.…”

Section: A Sso Ciati On Of Te S Tis-s Pecific Ac Tin Cp and Male Inmentioning

confidence: 99%

Physiological role of actin regulation in male fertility: Insight into actin capping proteins in spermatogenic cells

Soda

Miyagawa

Fukuhara

et al. 2020

Reprod Medicine & Biology

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Background During spermatogenesis, cytoskeletal elements are essential for spermatogenic cells to change morphologically and translocate in the seminiferous tubule. Actin filaments have been revealed to be concentrated in specific regions of spermatogenic cells and are regulated by a large number of actin‐binding proteins. Actin capping protein is one of the essential actin regulatory proteins, and a recent study showed that testis‐specific actin capping protein may affect male infertility. Methods The roles of actin during spermatogenesis and testis‐specific actin capping protein were reviewed by referring to the previous literature. Main findings (Results) Actin filaments are involved in several crucial phases of spermatogenesis including acrosome biogenesis, flagellum formation, and nuclear processes such as the formation of synaptonemal complex. Besides, an implication for capacitation and acrosome reaction was also suggested. Testis‐specific actin capping proteins are suggested to be associated with the removal of excess cytoplasm in mice. By the use of high‐throughput sperm proteomics, lower protein expression of testis‐specific actin capping protein in infertile men was also reported. Conclusion Actin is involved in the crucial phases of spermatogenesis, and the altered expression of testis‐specific actin capping proteins is suggested to be a cause of male infertility in humans.

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“…In the present study, a novel ACTL7A mutation (c.1101dupC, p.S368Qfs*5) was discovered in one patient who experienced recurrent fertilization failure after several ART attempts. ACTL7A encodes an actin-like protein that is located in the acrosome and tail of mature spermatozoa and plays an important role in the sperm-egg fusion process [10] . After fusion, downstream proteins activate the oocytes for fertilization and subsequent embryonic development.…”

Section: Introductionmentioning

confidence: 99%

A Homozygous Protein-Truncating Mutation in ACTL7A Causes Male Infertility Characterized by Fertilization Failure

Chen

Sang

et al. 2022

Reproductive and Developmental Medicine

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Objective: This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure. Methods: Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University. Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells. Results: Samples from 12 couples with total fertilization failure or poor fertilization (fertilization rate <20%) were subjected to whole-exome sequencing, and a novel homozygous protein-truncating mutation (c. 1101dupC, p. S368Qfs*5) in ACTL7A was identified in a patient with recurrent poor fertilization. The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells. Conclusions: Our findings expand the mutational and phenotypic spectrum of ACTL7A, thus providing a potential diagnostic marker for fertilization failure due to male factors.

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Genetic Variation in the Testis-Specific HASPIN Gene Encoding a Serine/Threonine Protein Kinase in Infertile Japanese Males

Cited by 4 publications

References 22 publications

Genetic Variation in the Testis-Specific Poly(A) Polymerase Beta (PAPOLB) Gene Among Japanese Males

Genetic Variation in the Testis-Specific Poly(A) Polymerase Beta (PAPOLB) Gene Among Japanese Males

Physiological role of actin regulation in male fertility: Insight into actin capping proteins in spermatogenic cells

A Homozygous Protein-Truncating Mutation in ACTL7A Causes Male Infertility Characterized by Fertilization Failure

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