Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes.

Autor:	Tomaszkiewicz M; Department of Biology, The Pennsylvania State University, University Park, PA 16802, USA., Sahlin K; Department of Mathematics, Science for Life Laboratory, Stockholm University, Stockholm, Sweden., Medvedev P; Department of Computer Science and Engineering, The Pennsylvania State University, University Park, PA 16802, USA.; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA 16802, USA.; Center for Medical Genomics, The Pennsylvania State University, University Park, PA 16802, USA.; Center for Computational Biology and Bioinformatics, The Pennsylvania State University, University Park, PA 16802, USA., Makova KD; Department of Biology, The Pennsylvania State University, University Park, PA 16802, USA.; Center for Medical Genomics, The Pennsylvania State University, University Park, PA 16802, USA.; Center for Computational Biology and Bioinformatics, The Pennsylvania State University, University Park, PA 16802, USA.
Jazyk:	angličtina
Zdroj:	Genome biology and evolution [Genome Biol Evol] 2023 Nov 01; Vol. 15 (11).
DOI:	10.1093/gbe/evad205
Abstrakt:	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 (BPY2, CDY, DAZ, HSFY, PRY, RBMY, TSPY, VCY, 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. (© The Author(s) 2023. Published by Oxford University Press on behalf of Society for Molecular Biology and Evolution.)
Databáze:	MEDLINE
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