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Diversity of reptile sex chromosome evolution revealed by cytogenetic and linked-read sequencing

Zoological Research 2022年第5期43卷 719-733页

作者： Ze-Xian Zhu Kazumi Matsubara Foyez Shams Jason Dobry Erik Wapstra Tony Gamble Stephen DSarre Arthur Georges Jennifer AMarshall Graves Qi Zhou Tariq Ezaz MOE Laboratory of Biosystems Homeostasis and Protection and Zhejiang Provincial Key Laboratory for Cancer Molecular Cell Biology Life Sciences InstituteZhejiang UniversityHangzhouZhejiang 310058China Institute for Applied Ecology University of CanberraCanberra 2601Australia School of Biological Sciences University of TasmaniaHobartTasmania 7001Australia Department of Biological Sciences Marquette UniversityMilwaukeeWisconsin 52322USA School of Life Science La Trobe UniversityMelbourne 3168 Australia Department of Neuroscience and Developmental Biology University of ViennaVienna 1030Austria Center for Reproductive Medicine The 2nd Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhouZhejiang 310009China Department of Environmental Biology College of Bioscience and BiotechnologyChubu UniversityKasugaiAichi 487-8501Japan

Reptile sex determination is attracting much attention because the great diversity of sex-determination and dosage compensation mechanisms permits us to approach fundamental questions about mechanisms of sex chromosome turnover. Recent studies have made significant progress in better understanding diversity and conservation of reptile sex chromosomes, with however no reptile master sex determination genes identified. Here we describe an integrated genomics and cytogenetics pipeline,combining probes generated from the microdissected sex chromosomes with transcriptome and genome sequencing to explore the sex chromosome diversity in non-model Australian reptiles. We tested our pipeline on a turtle, two species of geckos, and a monitor lizard. Genes identified on sex chromosomes were compared to the chicken genome to identify homologous regions among the four species. We identified candidate sex determining genes within these regions, including conserved vertebrate sex-determining genes pdgfa,pdgfra amh and wt1, and demonstrated their testis or ovary-specific expression. All four species showed gene-by-gene rather than chromosome-wide dosage compensation. Our results imply that reptile sex chromosomes originated by independent acquisition of sex-determining genes on different autosomes,as well as translocations between different ancestral macro-and *** discuss the evolutionary drivers of the slow differentiation and turnover of reptile sex chromosomes.

关键词： sexdetermination Reptiles Genomics Cytogenetics Sex chromosome turnover

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