“The size of a chromosome does not correlate with complexity of the sequences within,” Jackson Laboratory professor Charles Lee told BioWorld. Which is why the Y chromosome, which is the runt of the litter as far as human chromosomes are concerned, was the last to be fully sequenced. Now, 20 years after publication of the first near-complete human genome sequence and 16 months after the telomere to telomere (T2T) consortium announced it had completed “gapless assemblies for all chromosomes except Y,” of the human genome, it really is done.
Back-to-back papers in the June 22, 2023, issue of Nature have identified separate molecular mechanisms underlying sex-specific cancer outcomes. Researchers from The University of Texas MD Anderson Cancer Center showed that increased expression of the epigenetic enzyme KDM5D, which is located on the Y chromosome, contributed to cancer progression in KRAS-mutated tumors. In the same issue of Nature, a team from Cedars-Sinai reported new insights into the consequences of losing the entire Y chromosome.
The mosaic loss of Y chromosome in myeloid cells is a major risk factor for increased incidence of cardiovascular and fibrotic diseases during aging. The authors of a study published in the July 14, 2022, online edition of Science found that bone marrow-derived myeloid cells exhibited mLOY during aging.
Scientists have found a rare genetic variant carried by 1 in 3,000 people, which they say has a larger impact on the risk of developing type 2 diabetes than any other genetic defect identified to date.
