New analysis of the genetic sequence of the X chromosome reveals that despite its reputation as the most stable chromosome of the genome, the X has actually been undergoing relatively swift change.
"We view this as the double life of the X chromosome," said Whitehead Institute Director David Page, whose lab conducted this new study.
"The X is the most famous, most intensely studied chromosome in all of human genetics. And the story of the X has been the story of X-linked recessive diseases, such as colour blindness, hemophilia, and Duchenne's muscular dystrophy," Page said.
Researchers embarked on a rigorous comparison of the mouse and human X chromosomes, in part to test the longstanding biological tenet that the gene content of X chromosomes is conserved and shared across mammals, Phys.Org reported.
Page and colleagues devised what is known as SHIMS (single-haplotype iterative mapping and sequencing) to establish a definitive reference DNA sequence of the Y chromosome.
The lab greatly improved the human X reference sequence, accurately assembling three large amplicons, identifying previously unknown palindromes, and ultimately shortening the entire length of the sequence by eliminating four major gaps.
Researchers said these results suggest that it's time to re-examine the biological and medical importance of the X chromosome.
The study was published in the journal Nature Genetics.
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