https://phys.org/news/2024-05-chromosome-sequences-great-ape-species.html
Newly generated, complete "end-to-end" reference
genomes for the sex chromosomes of five great
ape species and one lesser ape species—produced
by an international collaborative team led by
researchers at Penn State, the National Human
Genome Research Institute and the University of
Washington—highlight extremely rapid changes on
the male-specific Y chromosome among ape species.
...
https://www.nature.com/articles/s41586-024-07473-2
Published: 29 May 2024
The complete sequence and comparative analysis
of ape sex chromosomes
Abstract
Apes possess two sex chromosomes—the
male-specific Y chromosome and the X chromosome,
which is present in both males and females. The
Y chromosome is crucial for male reproduction,
with deletions being linked to infertility.
The X chromosome is vital for reproduction and
cognition. Variation in mating patterns and
brain function among apes suggests corresponding
differences in their sex chromosomes. However,
owing to their repetitive nature and incomplete
reference assemblies, ape sex chromosomes have
been challenging to study. Here, using the
methodology developed for the
telomere-to-telomere (T2T) human genome, we
produced gapless assemblies of the X and Y
chromosomes for five great apes (bonobo (Pan
paniscus), chimpanzee (Pan troglodytes),
western lowland gorilla (Gorilla gorilla
gorilla), Bornean orangutan (Pongo pygmaeus)
and Sumatran orangutan (Pongo abelii)) and a
lesser ape (the siamang gibbon (Symphalangus
syndactylus)), and untangled the intricacies
of their evolution. Compared with the X
chromosomes, the ape Y chromosomes vary greatly
in size and have low alignability and high
levels of structural rearrangements—owing to
the accumulation of lineage-specific ampliconic
regions, palindromes, transposable elements and
satellites. Many Y chromosome genes expand in
multi-copy families and some evolve under
purifying selection. Thus, the Y chromosome
exhibits dynamic evolution, whereas the X
chromosome is more stable. Mapping short-read
sequencing data to these assemblies revealed
diversity and selection patterns on sex
chromosomes of more than 100 individual great
apes. These reference assemblies are expected
to inform human evolution and conservation
genetics of non-human apes, all of which are
endangered species.
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