Helen Skaletsky

Oct 9, 2024 | biorxiv.org | Rebecca Harris |Troy W Whitfield |Laura Blanton |Helen Skaletsky

AbstractThe origins of sex differences in human disease are elusive, in part because of difficulties in separating the effects of sex hormones and sex chromosomes. To separate these variables, we examined gene expression in four groups of trans- or cisgender individuals: XX individuals treated with exogenous testosterone (n=21), XY treated with exogenous estradiol (n=13), untreated XX (n=20), and untreated XY (n=15).

Jun 11, 2024 | biorxiv.org | Daniel W Bellott |Jennifer Hughes |Helen Skaletsky |Erik Owen

AbstractA recent publication describing the assembly of the Y chromosomes of 43 males was remarkable not only for its ambitious technical scope, but also for the startling suggestion that the boundary of the pseudoautosomal region 1 (PAR1), where the human X and Y chromosomes engage in crossing-over during male meiosis, lies 500 kb distal to its previously reported location. Where is the boundary of the human PAR1?

Feb 8, 2023 | cell.com | Alexander K. Godfrey |Helen Skaletsky |Daniel W Bellott |Abigail F. Groff

Highlights•Analyzed gene expression in sex chromosome aneuploidy samples using linear models•Xi and Xa transcriptomes are modular•38% of X chromosome genes are affected by Xi copy number—in cis and in trans•10 X chromosome genes likely contribute to male-female differences in somatic tissuesSummaryThe “inactive” X chromosome (Xi) has been assumed to have little impact, in trans, on the “active” X (Xa).