Evolution of ape sex chromosomes has remained enigmatic due to their highly repetitive nature and incomplete reference assemblies (particularly for the Y). Here we generated gapless, telomere-to-telomere assemblies of the X and Y chromosomes for all extant great ape species—chimpanzee, bonobo, gorilla, Bornean and Sumatran orangutans—and for an outgroup lesser ape, the siamang. To achieve this, we utilized state-of-the-art experimental and computational methods developed for deciphering the human T2T genome. These assemblies completely resolved ampliconic and satellite sequences, and allowed us to untangle ape sex chromosome evolution in unprecedented detail, leading to the following results. First, despite the divergence time of less than 18 million years, only 12-26% of non-human ape Y sequences align to the human Y, compared to 84-97% of non-human ape X sequences aligning to the human X. Second, depending on species, segmental duplications represent 21-53% of ape Y assemblies, compared to only 3.9-6.0% of ape X assemblies. Third, ampliconic sequences constitute 8.7-46% of ape Y assemblies, compared to only 0.15-1.1% of ape X assemblies. Most of such sequences on the Y are species-specific. Fourth, repeats account for 71-85% of ape Y assemblies compared to 57-64% of ape X assemblies. Our analyses indicate a remarkably dynamic evolution on the largely non-recombining Y chromosome, in contrast to a more stable evolution on the X chromosome. As the Y harbors regions important for fertility, our research will inform future studies of conservation genetics of non-human apes, all of which are endangered species.
Telomere-to-telomere assemblies uncover secrets of ape sex chromosomes Maintien de l'intégrité du génome au cours de la réplication
ORGANISÉ PAR L'IGH
International Summer-School on Epigenetics du 15/07/2024 jusqu'au 19/07/2024 Genopolys, Montpellier - France
Méiose et recombinaisonMBHD Dpt. Seminar Series
IGH Seminar Series of the Department “Molecular basis of Human Diseases” du 02/04/2024 jusqu'au 11/10/2024 11:30 - 14:00 Genopolys amphitheater
GCB&D Dpt. Seminar Series
IGH Seminar Series of the Department “Genetics, Cell Biology and Development” du 19/02/2024 jusqu'au 15/11/2024 Genopolys amphitheater
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The nuclear pore complex in ageing - A landmark structure at the crossroads of genome stability and protein homeostasis.
Architecture nucléaire dans les contextes physiologiques et pathologiques 24/05/2024 11:30 Genopolys AmphitheatreDNA Replication Forks and the DNA Damage Checkpoint
Réplication et Dynamique du Génome 04/06/2024 11:30 Genopolys AmphitheatreDecoding the transcription circuitry in early mammalian development
Méiose et recombinaison 11/07/2024 11:30 Genopolys AmphitheatreCongrès
International Summer-School on Epigenetics
Méiose et recombinaison 15/07/2024 jusqu'au 19/07/2024 Genopolys, Montpellier - FranceTranscription and Genome maintenance
09/09/2024 jusqu'au 13/09/2024 Roscoff, France2024 RNase H meeting
16/09/2024 jusqu'au 18/09/2024 Engelthal Ingelheim, GermanyZoom
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