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Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
Nagirnaja L, Mørup N, Nielsen JE, Stakaitis R, Golubickaite I, Oud MS, Winge SB, Carvalho F, Aston KI, Khani F, van der Heijden GW, Marques CJ, Skakkebaek NE, Rajpert-De Meyts E, Schlegel PN, Jørgensen N, Veltman JA, Lopes AM, Conrad DF, Almstrup K. Nagirnaja L, et al. N Engl J Med. 2021 Aug 19;385(8):707-719. doi: 10.1056/NEJMoa2028973. Epub 2021 Aug 4. N Engl J Med. 2021. PMID: 34347949 Free PMC article.
Critical to the processing of piRNAs is the protein poly(A)-specific RNase-like domain containing 1 (PNLDC1), which trims their 3' ends and, when disrupted in mice, causes azoospermia and male infertility. ...Furthermore, the length distribution of piRNAs and the number of …
Critical to the processing of piRNAs is the protein poly(A)-specific RNase-like domain containing 1 (PNLDC1), which trims their 3' en …
PNLDC1 catalysis and postnatal germline function are required for piRNA trimming, LINE1 silencing, and spermatogenesis in mice.
Wei C, Yan X, Mann JM, Geng R, Xie H, Demireva EY, Sun L, Ding D, Chen C. Wei C, et al. bioRxiv [Preprint]. 2023 Dec 27:2023.12.26.573375. doi: 10.1101/2023.12.26.573375. bioRxiv. 2023. PMID: 38234819 Free PMC article. Preprint.
Here, by inactivating Pnldc1 exonuclease activity in vitro and in mice, we reveal that PNLDC1 trimmer activity is required for both pre-pachytene piRNA and pachytene piRNA 3' end trimming and male fertility. Furthermore, conditional inactivation of Pnldc1 in …
Here, by inactivating Pnldc1 exonuclease activity in vitro and in mice, we reveal that PNLDC1 trimmer activity is required for …
A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility.
Zhao SY, Meng LL, Du ZL, Tan YQ, He WB, Wang X. Zhao SY, et al. Asian J Androl. 2023 Mar 21;25(5):643-5. doi: 10.4103/aja20233. Online ahead of print. Asian J Androl. 2023. PMID: 36960498 Free PMC article.
To date, five male patients with biallelic loss-of-function (LOF) variants of PARN-like ribonuclease domain-containing exonuclease 1 ( PNLDC1 ) have been reported to experience infertility with nonobstructive azoospermia. ...Furthermore, the disomy rate of chromosomes in t …
To date, five male patients with biallelic loss-of-function (LOF) variants of PARN-like ribonuclease domain-containing exonuclease 1 ( PN …
PNLDC1, mouse pre-piRNA Trimmer, is required for meiotic and post-meiotic male germ cell development.
Nishimura T, Nagamori I, Nakatani T, Izumi N, Tomari Y, Kuramochi-Miyagawa S, Nakano T. Nishimura T, et al. EMBO Rep. 2018 Mar;19(3):e44957. doi: 10.15252/embr.201744957. Epub 2018 Feb 14. EMBO Rep. 2018. PMID: 29444933 Free PMC article.
Recently, poly(A)-specific ribonuclease-like domain-containing 1 (PNLDC1) was identified as the pre-piRNA Trimmer in silkworms. However, the function of PNLDC1 in other species remains unknown. Here, we generate Pnldc1 mutant mice and analyze small RNAs in th …
Recently, poly(A)-specific ribonuclease-like domain-containing 1 (PNLDC1) was identified as the pre-piRNA Trimmer in silkworms. Howev …
PNLDC1 is essential for piRNA 3' end trimming and transposon silencing during spermatogenesis in mice.
Ding D, Liu J, Dong K, Midic U, Hess RA, Xie H, Demireva EY, Chen C. Ding D, et al. Nat Commun. 2017 Oct 10;8(1):819. doi: 10.1038/s41467-017-00854-4. Nat Commun. 2017. PMID: 29018194 Free PMC article.
The physiological function of PNLDC1 in mammals remains unknown. Using Pnldc1-deficient mice, here we show that PNLDC1 is required for piwi-interacting RNA biogenesis, transposon silencing, and spermatogenesis. ...Pnldc1 mutant mice exhibit disrupted L …
The physiological function of PNLDC1 in mammals remains unknown. Using Pnldc1-deficient mice, here we show that PNLDC1 …
Expanding the repertoire of deadenylases.
Skeparnias I, Αnastasakis D, Shaukat AN, Grafanaki K, Stathopoulos C. Skeparnias I, et al. RNA Biol. 2017 Oct 3;14(10):1320-1325. doi: 10.1080/15476286.2017.1300222. Epub 2017 Mar 7. RNA Biol. 2017. PMID: 28267419 Free PMC article. Review.
Deadenylases belong to an expanding family of exoribonucleases involved mainly in mRNA stability and turnover, with the exception of PARN which has additional roles in the biogenesis of several important non-coding RNAs, including miRNAs and piRNAs. Recently, PARN in C. elegans a …
Deadenylases belong to an expanding family of exoribonucleases involved mainly in mRNA stability and turnover, with the exception of PARN wh …
Mammalian PNLDC1 is a novel poly(A) specific exonuclease with discrete expression during early development.
Anastasakis D, Skeparnias I, Shaukat AN, Grafanaki K, Kanellou A, Taraviras S, Papachristou DJ, Papakyriakou A, Stathopoulos C. Anastasakis D, et al. Nucleic Acids Res. 2016 Oct 14;44(18):8908-8920. doi: 10.1093/nar/gkw709. Epub 2016 Aug 11. Nucleic Acids Res. 2016. PMID: 27515512 Free PMC article.
PNLDC1 is a homologue of poly(A) specific ribonuclease (PARN), a known deadenylase with additional role in processing of non-coding RNAs. Both enzymes were reported recently to participate in piRNA biogenesis in silkworm and C. elegans, respectively. To get insights on the …
PNLDC1 is a homologue of poly(A) specific ribonuclease (PARN), a known deadenylase with additional role in processing of non-coding R …
Trimming it short: PNLDC1 is required for piRNA maturation during mouse spermatogenesis.
Bronkhorst AW, Ketting RF. Bronkhorst AW, et al. EMBO Rep. 2018 Mar;19(3):e45824. doi: 10.15252/embr.201845824. Epub 2018 Feb 19. EMBO Rep. 2018. PMID: 29459487 Free PMC article.
Nishimura et al 1 in this issue of EMBO Reports and two independent studies 2, 3 now identified PNLDC1 as the exonuclease that is responsible for piRNA 3' end processing and transposon silencing during mouse spermatogenesis. Together, these studies establish PNLDC1 …
Nishimura et al 1 in this issue of EMBO Reports and two independent studies 2, 3 now identified PNLDC1 as the exonuclease that is res …
22 results