Sex chromosome evolution

Credit: Audrey Guiblet

Several lines of our recent research have had mammalian sex chromosome evolution as a common theme. We have been studying the genomic determinants of X chromosome inactivation (XCI; Carrel et al. 2006). By contrasting the evolution of genes on sex chromosomes in eutherians with that of their autosomal homologs in marsupials and monotremes, we were able to shed light on the earliest stages of eutherian sex chromosome evolution (Wilson and Makova 2009). We also recently generated a comprehensive list of pseudogenes on the human Y and studied what determines whether a gene will survive or die on this chromosome (Wilson Sayres and Makova 2013). To test whether selection or drift leads to loss of genes on chromosome Y, we sequenced and analyzed all X-degenerate Y chromosome genes in gorilla (Goto et al. 2009) and are currently characterizing such genes in other primates. (Figure : Wilson Sayres & Makova 2013). Collaborators: Laura Carrel, Paul Medvedev.

Members

Postdoctoral Scholar

Postdoctoral Scholar

Research Technologist

Collaborators

Press Releases

Newly generated, complete “end-to-end” reference genomes for the sex chromosomes of five great ape species and one lesser ape species — …

Listen to the Science Friday podcast where Adam Phillippy and Kateryna Makova discuss the challenges of sequencing the Y chromosome, …

Researchers have reconstructed the ancestral sequence of the great ape Y chromosome by comparing three existing (gorilla, human, and …

Publications

. The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes. NATURE, 2024.

Sex chromosome Video Paper Link Press release

. Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes. GENOME BIOL EVOL, 2023.

Sex chromosome Paper Link

. The complete sequence of a human Y chromosome. NATURE, 2023.

Sex chromosome Paper Link

. Whole-genome sequence and assembly of the Javan gibbon (Hylobates moloch). J HERED, 2022.

Sex chromosome Paper Link

. Towards complete and error-free genome assemblies of all vertebrate species. NATURE, 2021.

Sex chromosome Paper Link

. Dynamic evolution of great ape Y chromosomes. P NATL ACAD SCI USA, 2020.

Sex chromosome Paper Link

. Ampliconic genes on the great ape Y chromosomes: Rapid evolution of copy number but conservation of expression levels. GENOME BIOL EVOL, 2020.

PDF Sex chromosome Paper Link

. DiscoverY: a classifier for identifying Y chromosome sequences in male assemblies. BMC GENOMICS, 2019.

Sex chromosome Paper Link

. High Satellite Repeat Turnover in Great Apes Studied with Short- and Long-read Technologies. MOL BIOL EVOL, 2019.

Sex chromosome Paper Link

. Correcting palindromes in long reads after whole-genome amplification. BMC GENOMICS, 2018.

Sex chromosome Paper Link

. High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups. GENOME BIOL EVOL, 2018.

Sex chromosome Paper Link

. RecoverY: k-mer-based read classification for Y-chromosome-specific sequencing and assembly. BIOINFORMATICS, 2018.

Sex chromosome Paper Link

. Y and W Chromosome Assemblies: Approaches and Discoveries. TRENDS GENET, 2017.

Sex chromosome Paper Link

. A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y. GENOME RES, 2016.

Sex chromosome Paper Link

. Gene Survival and Death on the Human Y Chromosome. MOL BIOL EVOL, 2013.

Sex chromosome Paper Link

. Genomic Analyses of Sex Chromosome Evolution. ANNU REV GENOM HUM G, 2009.

Sex chromosome Paper Link

. Evolutionary and Biomedical Insights from the Rhesus Macaque Genome. SCIENCE, 2007.

Sex chromosome Paper Link

. Genomic Environment Predicts Expression Patterns on the Human Inactive X Chromosome. PLOS GENET, 2006.

Sex chromosome Paper Link

. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. NATURE, 2004.

Regional variation Sex chromosome Paper Link

. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. NATURE, 2004.

Regional variation Sex chromosome Paper Link

. Male-driven evolution. CURR OPIN GENET DEV, 2002.

Regional variation Sex chromosome Paper Link