Newly generated, complete genomes for the sex chromosomes of six primate species may inform conservation of these endangered species and shed light on sex-related genetic diseases in both humans and our closest living relatives.
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.
"The Y chromosome has been challenging to sequence because it contains many repetitive regions, and, because traditional short-read sequencing technology decodes sequences in short bursts, it is difficult to put the resulting segments in the correct order," said Karol Pál, postdoctoral researcher at Penn State and a co-first author of the study."T2T methods use long-read sequencing technologies that overcome this challenge.
The researchers found that many genes on the Y chromosome seem to use two strategies to survive. The first takes advantage of genetic redundancy -- the presence of multiple copies of the same gene on a chromosome -- so that intact copies of the gene can compensate for copies that might acquire mutations. The team quantified this genetic redundancy by completing the landscape of multi-copy gene families on ape sex chromosomes for the first time.
In collaboration with Michael Schatz and his team at Johns Hopkins University, the researchers also studied the sex chromosomes of 129 individual gorillas and chimpanzees to better understand the genetic variation within each species and search for evidence of natural selection and other evolutionary forces acting on them.
Apes Evolutionary Biology New Species Biology Molecular Biology Biochemistry Research Cell Biology
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