A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility

1970 ◽  
Vol 9 (6) ◽  
pp. 460-467 ◽  
Author(s):  
P.L. Pearson ◽  
J.D. Ellis ◽  
H.J. Evans
Keyword(s):  
Dna Repair ◽  
Male Infertility ◽  
Meiotic Prophase ◽  
Chiasma Formation ◽  
Repair Mechanism ◽  
Human Male ◽  
Defective Dna Repair

scholarly journals Impact of polymorphism in DNA repair genes OGG1 and XRCC1 on seminal parameters and human male infertility

Andrologia ◽  
2018 ◽  
Vol 50 (10) ◽  
pp. e13115 ◽  
Author(s):  
Anaís Garcia-Rodriguez ◽  
Moises de la Casa ◽  
Malena Serrano ◽  
Jamie Gosálvez ◽  
Rosa Roy Barcelona
Keyword(s):  
Dna Repair ◽  
Male Infertility ◽  
Dna Repair Genes ◽  
Human Male ◽  
Seminal Parameters ◽  
Repair Genes

scholarly journals Usp26 mutation in mice leads to defective spermatogenesis depending on genetic background

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Kohei Sakai ◽  
Chizuru Ito ◽  
Mizuki Wakabayashi ◽  
Satoko Kanzaki ◽  
Toshiaki Ito ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Background ◽  
Chiasma Formation ◽  
Mutant Mice ◽  
Reproductive Capacity ◽  
Wild Type ◽  
Human Male ◽  
Subsequent Decrease ◽  
Head Morphology ◽  
Defective Spermatogenesis

Abstract Spermatogenesis is a reproductive system process that produces sperm. Ubiquitin specific peptidase 26 (USP26) is an X chromosome-linked deubiquitinase that is specifically expressed in the testes. It has long been controversial whether USP26 variants are associated with human male infertility. Thus, in the present study, we introduced a mutation into the Usp26 gene in mice and found that Usp26 mutant males backcrossed to a DBA/2 background, but not a C57BL/6 background, were sterile or subfertile and had atrophic testes. These findings indicate that the effects of the Usp26 mutation on male reproductive capacity were influenced by genetic background. Sperm in the cauda epididymis of Usp26 mutant mice backcrossed to a DBA/2 background were decreased in number and showed a malformed head morphology compared to those of wild-type mice. Additionally, histological examinations of the testes revealed that the number of round and elongated spermatids were dramatically reduced in Usp26 mutant mice. The mutant mice exhibited unsynapsed chromosomes in pachynema and defective chiasma formation in diplonema, which presumably resulted in apoptosis of metaphase spermatocytes and subsequent decrease of spermatids. Taken together, these results indicate that the deficiencies in fertility and spermatogenesis caused by mutation of Usp26 were dependent on genetic background.

scholarly journals Discovery of pyrano[2,3-d]pyrimidine-2,4-dione derivatives as novel PARP-1 inhibitors: design, synthesis and antitumor activity

RSC Advances ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 4454-4464
Author(s):  
Nour E. A. Abd El-sattar ◽  
Eman H. K. Badawy ◽  
Eman Z. Elrazaz ◽  
Nasser S. M. Ismail
Keyword(s):  
Cell Death ◽  
Dna Repair ◽  
Antitumor Activity ◽  
Cancer Cell ◽  
Cytotoxic Agents ◽  
Repair Mechanism ◽  
Design Synthesis ◽  
Parp 1

PARP-1 are involved in DNA repair damage and so PARP-1 inhibitors have been used as potentiators in combination with DNA damaging cytotoxic agents to compromise the cancer cell DNA repair mechanism, resulting in genomic dysfunction and cell death.

scholarly journals GENE-16. CLINICALLY AGGRESSIVE MENINGIOMAS ARE CHARACTERIZED BY MUTATIONAL SIGNATURES ASSOCIATED WITH DEFECTIVE DNA REPAIR AND MUTATIONS IN CHROMATIN REMODELING GENES

2018 ◽  
Vol 20 (suppl_6) ◽  
pp. vi106-vi106
Author(s):  
Sylvia Kurz ◽  
Benjamin Liechty ◽  
Stephen Kelly ◽  
Varshini Vasudevaraja ◽  
Ramona Bledea ◽  
...  
Keyword(s):  
Dna Repair ◽  
Chromatin Remodeling ◽  
Mutational Signatures ◽  
Defective Dna Repair
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