Abou Alezz M, Celli L, Belotti G, Lisa A, Bione S (2020) Gc-ag introns features in long non-coding and protein-coding genes suggest their role in gene expression regulation. Front Genet 11:488

PubMed  PubMed Central  Google Scholar 

Burset M, Seledtsov IA, Solovyev VV (2000) Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res 28(21):4364–4375

CAS  PubMed  PubMed Central  Google Scholar 

Capco DG, Gallicano GI, McGaughey RW, Downing KH, Larabell CA (1993) Cytoskeletal sheets of mammalian eggs and embryos: a lattice-like network of intermediate filaments. Cell Motil Cytoskeleton 24(2):85–99

CAS  PubMed  Google Scholar 

Chen M, Heilbronn LK (2017) The health outcomes of human offspring conceived by assisted reproductive technologies (ART). J Dev Orig Health Dis 8(4):388–402

CAS  PubMed  Google Scholar 

Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y et al (2016) Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med 374(3):223–232

CAS  PubMed  PubMed Central  Google Scholar 

Grou CP, Pinto MP, Mendes AV, Domingues P, Azevedo JE (2015) The de novo synthesis of ubiquitin: identification of deubiquitinases acting on ubiquitin precursors. Sci Rep 5:12836

CAS  PubMed  PubMed Central  Google Scholar 

Jentoft IMA, Bauerlein FJB, Welp LM, Cooper BH, Petrovic A, So C, Penir SM, Politi AZ, Horokhovskyi Y, Takala I et al (2023) Mammalian oocytes store proteins for the early embryo on cytoplasmic lattices. Cell 186(24):5308–27e25

CAS  PubMed  Google Scholar 

Kobayashi M, Oshima S, Maeyashiki C, Nibe Y, Otsubo K, Matsuzawa Y, Nemoto Y, Nagaishi T, Okamoto R, Tsuchiya K et al (2016) The ubiquitin hybrid gene UBA52 regulates ubiquitination of ribosome and sustains embryonic development. Sci Rep 6:36780

CAS  PubMed  PubMed Central  Google Scholar 

Kralovicova J, Hwang G, Asplund AC, Churbanov A, Smith CI, Vorechovsky I (2011) Compensatory signals associated with the activation of human GC 5’ splice sites. Nucleic Acids Res 39(16):7077–7091

CAS  PubMed  PubMed Central  Google Scholar 

Leng L, Sun J, Huang J, Gong F, Yang L, Zhang S, Yuan X, Fang F, Xu X, Luo Y et al (2019) Single-Cell transcriptome analysis of uniparental embryos reveals Parent-of-Origin effects on human preimplantation development. Cell Stem Cell 25(5):697–712 e6

CAS  PubMed  Google Scholar 

Liu Q, Chen X, Qiao J (2022) Advances in studying human gametogenesis and embryonic development in China. Biol Reprod 107(1):12–26

PubMed  Google Scholar 

Lu X, Gao Z, Qin D, Li L (2017) A maternal functional module in the mammalian oocyte-to-embryo transition. Trends Mol Med 23(11):1014–1023

PubMed  Google Scholar 

Mao J, O’Gorman C, Sutovsky M, Zigo M, Wells KD, Sutovsky P (2018) Ubiquitin A-52 residue ribosomal protein fusion product 1 (Uba52) is essential for preimplantation embryo development. Biol Open 7(10). https://doi.org/10.1242/bio.035717

Pandey P, Suyal G, Aprajita, Pasbola K, Sharma R (2023) NGS-based profiling identifies miRNAs and pathways dysregulated in cisplatin-resistant esophageal cancer cells. Funct Integr Genomics 23(2):111

CAS  PubMed  Google Scholar 

Prabhu SR, Ware AP, Umakanth S, Hande M, Mahabala C, Saadi AV, Satyamoorthy K (2023) Erythrocyte miRNA-92a-3p interactions with PfEMP1 as determinants of clinical malaria. Funct Integr Genomics 23(2):93

CAS  PubMed  PubMed Central  Google Scholar 

Sang Q, Ray PF, Wang L (2023) Understanding the genetics of human infertility. Science 380(6641):158–163

CAS  PubMed  Google Scholar 

Sha Q-Q, Zheng W, Wu Y-W, Li S, Guo L, Zhang S, Lin G, Ou X-H, Fan H-Y (2020) Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans. Nat Commun 11(1):4917

CAS  PubMed  PubMed Central  Google Scholar 

Sun H, Gong TT, Jiang YT, Zhang S, Zhao YH, Wu QJ (2019) Global, regional, and national prevalence and disability-adjusted life-years for infertility in 195 countries and territories, 1990–2017: results from a global burden of disease study, 2017. Aging 11(23):10952–10991

PubMed  PubMed Central  Google Scholar 

Wang X, Song D, Mykytenko D, Kuang Y, Lv Q, Li B, Chen B, Mao X, Xu Y, Zukin V et al (2018) Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest. Reprod Biomed Online 36(6):698–704

PubMed  Google Scholar 

Wei Y, Wang J, Qu R, Zhang W, Tan Y, Sha Y, Li L, Yin T (2024) Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review. Hum Reprod Update 30(1):48–80

PubMed  Google Scholar 

Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B et al (2016) Mutations in PADI6 cause female infertility characterized by early embryonic arrest. Am J Hum Genet 99(3):744–752

CAS  PubMed  PubMed Central  Google Scholar 

Yurttas P, Vitale AM, Fitzhenry RJ, Cohen-Gould L, Wu W, Gossen JA, Coonrod SA (2008) Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo. Development 135(15):2627–2636

CAS  PubMed  Google Scholar 

Zheng W, Chen L, Dai J, Dai C, Guo J, Lu C, Gong F, Lu G, Lin G (2020a) New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage. J Assist Reprod Genet 37(1):205–212

Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S et al (2020b) Homozygous mutations in BTG4 cause zygotic cleavage failure and female infertility. Am J Hum Genet 107(1):24–33

Zhou J, Mao R, Gao L, Wang M, Long R, Wang X, Li Z, Jin L, Zhu L (2024) Novel variants in PADI6 genes cause female infertility due to early embryo arrest. J Assist Reprod Genet 41(12):3327–3336

PubMed  Google Scholar