Complete chromosome 8 sequence reveals novel genes and disease risks

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A full assembly of human chromosome 8 has now been completed. Its DNA content and arrangement are of interest in primate and human evolution, in several immune and developmental disorders, and in chromosome sequence structure and function generally. This chromosome has a fast-evolving region with a highly accelerated mutation rate in humans and human-like species. Also, comparative studies with ape and macaque sequences are helping to chart the evolutionary history of the chromosome 8 centromere.
This full assembly may contain clues to ape and human divergence; certain immune, brain and heart disorders; and other biomedical questions

The full assembly of human chromosome 8 is reported this week in Nature. While on the outside this chromosome looks typical, being neither short nor long or distinctive, its DNA content and arrangement are of interest in primate and human evolution, in several immune and developmental disorders, and in chromosome sequencing structure and function generally.

This linear assembly is a first for a human autosome - a chromosome not involved in sex determination. The entire sequence of chromosome 8 is 146,259,671 bases. The completed assembly fills in the gap of more than 3 million bases missing from the current reference genome.

The Nature paper is titled "The structure, function and evolution of a complete chromosome 8."

One of several intriguing characteristics of chromosome 8 is a fast-evolving region, where the mutation rate appears to be highly accelerated in humans and human-like species, in contrast to the rest of the human genome.

While chromosome 8 offers some insights into evolution and human biology, the researchers point out that the complete assembly of all human chromosomes would be necessary to acquire a fuller picture.

An international team of scientists collaborated on the chromosome 8 assembly and analysis. The lead author of the paper is Glennis Logsdon, a postdoctoral fellow in genome sciences at the University of Washington School of Medicine in Seattle.

The senior author is Evan Eichler, professor of genome sciences at the UW School of Medicine and a Howard Hughes Medical Institute investigator.…
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