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Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes
Stockholm University, Faculty of Science, Department of Mathematics. Stockholm University, Science for Life Laboratory (SciLifeLab).ORCID iD: 0000-0001-7378-2320
Number of Authors: 42023 (English)In: Genome Biology and Evolution, E-ISSN 1759-6653, Vol. 15, no 11, article id evad205Article in journal (Refereed) Published
Abstract [en]

Y chromosomal ampliconic genes (YAGs) are important for male fertility, as they encode proteins functioning in spermatogenesis. The variation in copy number and expression levels of these multicopy gene families has been studied in great apes; however, the diversity of splicing variants remains unexplored. Here, we deciphered the sequences of polyadenylated transcripts of all nine YAG families (BPY2CDYDAZHSFYPRYRBMYTSPYVCY, and XKRY) from testis samples of six great ape species (human, chimpanzee, bonobo, gorilla, Bornean orangutan, and Sumatran orangutan). To achieve this, we enriched YAG transcripts with capture probe hybridization and sequenced them with long (Pacific Biosciences) reads. Our analysis of this data set resulted in several findings. First, we observed evolutionarily conserved alternative splicing patterns for most YAG families except for BPY2 and PRY. Second, our results suggest that BPY2 transcripts and proteins originate from separate genomic regions in bonobo versus human, which is possibly facilitated by acquiring new promoters. Third, our analysis indicates that the PRY gene family, having the highest representation of noncoding transcripts, has been undergoing pseudogenization. Fourth, we have not detected signatures of selection in the five YAG families shared among great apes, even though we identified many species-specific protein-coding transcripts. Fifth, we predicted consensus disorder regions across most gene families and species, which could be used for future investigations of male infertility. Overall, our work illuminates the YAG isoform landscape and provides a genomic resource for future functional studies focusing on infertility phenotypes in humans and critically endangered great apes.

Place, publisher, year, edition, pages
2023. Vol. 15, no 11, article id evad205
Keywords [en]
transcript isoform, diversity, ampliconic gene, Y chromosome, great apes
National Category
Microbiology Zoology
Identifiers
URN: urn:nbn:se:su:diva-225091DOI: 10.1093/gbe/evad205ISI: 001109466800004PubMedID: 37967251Scopus ID: 2-s2.0-85178499138OAI: oai:DiVA.org:su-225091DiVA, id: diva2:1824854
Available from: 2024-01-08 Created: 2024-01-08 Last updated: 2024-07-04Bibliographically approved

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Sahlin, Kristoffer

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