A novel missense variant in PNLDC1 associated with nonobstructive azoospermia

Akbari A., Padidar K., Salehi N., Mashayekhi M., Almadani N., Sadighi Gilani M. A. et al. 2021 Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals. Hum. Reprod. 36, 1134–1145

Article  PubMed  CAS  Google Scholar 

Akbari A., Zoha Tabatabaei S., Salehi N., Padidar K., Almadani N., Ali Sadighi Gilani M. et al. 2022 Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous family. Gene 821, 146281

Article  PubMed  CAS  Google Scholar 

Anastasakis D., Skeparnias I., Shaukat A.-N., Grafanaki K., Kanellou A., Taraviras S. et al. 2016 Mammalian PNLDC1 is a novel poly (A) specific exonuclease with discrete expression during early development. Nucleic Acids Res. 44, 8908–8920

Article  PubMed  PubMed Central  CAS  Google Scholar 

Berman H. M., Westbrook J., Feng Z., Gilliland G., Bhat T. N., Weissig H. et al. 2000 The Protein Data Bank. Nucleic Acids Res. 28, 235–242

Article  PubMed  PubMed Central  CAS  Google Scholar 

Butler A., Hoffman P., Smibert P., Papalexi E. and Satija R. 2018 Integrating single-cell transcriptomic data across different conditions, technologies, and species. Nat. Biotechnol. 36, 411–420

Article  PubMed  PubMed Central  CAS  Google Scholar 

Castañeda J. M., Miyata H., Ikawa M. and Matzuk M. M. 2018 Sperm defects. In Encyclopedia of reproduction (ed. M. K. Skinner), 2nd edition. pp. 276–281, Academic Press, Oxford.

Chapter  Google Scholar 

Chun S. and Fay J. C. 2009 Identification of deleterious mutations within three human genomes. Genome Res. 19, 1553–1561

Article  PubMed  PubMed Central  CAS  Google Scholar 

Dai P., Wang X., Gou L. T., Li Z. T., Wen Z., Chen Z. G. et al. 2019 A Translation-activating function of MIWI/piRNA during mouse spermiogenesis. Cell 179, 1566–1581

Article  PubMed  PubMed Central  CAS  Google Scholar 

DePristo M. A., Banks E., Poplin R., Garimella K. V., Maguire J. R., Hartl C. et al. 2011 A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491–498

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ding D., Liu J., Dong K., Midic U., Hess R. A., Xie H. et al. 2017 PNLDC1 is essential for piRNA 3′ end trimming and transposon silencing during spermatogenesis in mice. Nat. Commun. 8, 1–10

Article  Google Scholar 

Ding D., Liu J., Dong K., Melnick A. F., Latham K. E. and Chen C. 2018 Mitochondrial membrane-based initial separation of MIWI and MILI functions during pachytene piRNA biogenesis. Nucleic Acids Res. 47, 2594–2608

Article  PubMed Central  Google Scholar 

Dong C., Wei P., Jian X., Gibbs R., Boerwinkle E., Wang K. and Liu X. 2015 Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum. Mol. Genet. 24, 2125–2137

Article  PubMed  CAS  Google Scholar 

Gou L. T., Dai P., Yang J. H., Xue Y., Hu Y. P., Zhou Y., Kang J. Y. et al. 2014 Pachytene piRNAs instruct massive mRNA elimination during late spermiogenesis. Cell Res. 24, 680–700

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hermann B. P., Cheng K., Singh A., Roa-De La Cruz L., Mutoji K. N., Chen I. C. et al. 2018 The mammalian spermatogenesis single-cell transcriptome, from spermatogonial stem cells to spermatids. Cell Rep. 25, 1650–1667

Article  PubMed  PubMed Central  CAS  Google Scholar 

Humphrey W., Dalke A. and Schulten K. 1996 VMD: visual molecular dynamics. J. Mol. Graph. 14(33–38), 27–38

Google Scholar 

Izumi N., Shoji K., Sakaguchi Y., Honda S., Kirino Y., Suzuki T. et al. 2016 Identification and Functional Analysis of the Pre-piRNA 3’ Trimmer in Silkworms. Cell 164, 962–973

Article  PubMed  PubMed Central  CAS  Google Scholar 

Jarvi K., Lo K., Fischer A., Grantmyre J., Zini A., Chow V. et al. 2010 CUA Guideline: The workup of azoospermic males. Can. Urol. Assoc J. 4, 163–167

Article  PubMed  PubMed Central  Google Scholar 

Kasak L. and Laan M. 2021 Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives. Hum. Genet. 140, 135–154

Article  PubMed  Google Scholar 

Kherraf Z.-E., Cazin C., Bouker A., Fourati Ben Mustapha S., Hennebicq S., Septier A. et al. 2022 Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia. Am. J. Hum. Genet. 109, 508–517

Article  PubMed  PubMed Central  CAS  Google Scholar 

Li H. and Durbin R. 2009 Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754–1760

Article  PubMed  PubMed Central  CAS  Google Scholar 

Li X. Z., Roy C. K., Dong X., Bolcun-Filas E., Wang J., Han B. W. et al. 2013 An ancient transcription factor initiates the burst of piRNA production during early meiosis in mouse testes. Mol Cell. 50, 67–81

Article  PubMed  PubMed Central  CAS  Google Scholar 

Maragozidis P., Karangeli M., Labrou M., Dimoulou G., Papaspyrou K., Salataj E. et al. 2012 Alterations of deadenylase expression in acute leukemias: evidence for poly(a)-specific ribonuclease as a potential biomarker. Acta Haematol. 128, 39–46

Article  PubMed  CAS  Google Scholar 

McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A. et al. 2010 The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297–1303

Article  PubMed  PubMed Central  CAS  Google Scholar 

Nagirnaja L., Mørup N., Nielsen J. E., Stakaitis R., Golubickaite I., Oud M. S. et al. 2021 Variant PNLDC1, defective piRNA processing, and azoospermia. N. Engl. J. Med. 385, 707–719

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ng P. C. and Henikoff S. 2003 SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812–3814

Article  PubMed  PubMed Central  CAS  Google Scholar 

Nishimura T., Nagamori I., Nakatani T., Izumi N., Tomari Y., Kuramochi-Miyagawa S. and Nakano T. 2018 PNLDC 1, mouse pre-pi RNA Trimmer, is required for meiotic and post-meiotic male germ cell development. EMBO Rep. 19, e44957

Article  PubMed  PubMed Central  Google Scholar 

Oud M. S., Volozonoka L., Smits R. M., Vissers L., Ramos L. and A. Veltman J. 2019 A systematic review and standardized clinical validity assessment of male infertility genes. Hum. Rep. 34, 932–941

Article  CAS  Google Scholar 

Özata D. M., Yu T., Mou H., Gainetdinov I., Colpan C., Cecchini K. et al. 2020 Evolutionarily conserved pachytene piRNA loci are highly divergent among modern humans. Nat. Ecol. Evol. 4, 156–168

Article  PubMed  Google Scholar 

Pfeifer S., Butts S., Dumesic D., Fossum G., Gracia C., La Barbera A. et al. 2015 Diagnostic evaluation of the infertile female: a committee opinion. Fertil. Steril. 103, e44–e50

Article  Google Scholar 

Rahimian M., Askari M., Salehi N., Riccio A., Jaafarinia M., Almadani N. et al. 2023 A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia. Taiwan. J. Obstet. Gynecol. 62, 830–837

Article  PubMed  Google Scholar 

Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J. et al. 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–423

Article

Comments (0)

No login
gif