Helen Skaletsky

The paper develops rat models with modified sex chromosomes to study sex differences in physiology and disease by comparing XX vs. XY and varying X/Y chromosome numbers.

The paper sequences the rat Y chromosome and reveals a short pseudoautosomal region with high recombination rate and unique evolutionary features.

The paper identifies sex differences in cardiac metabolism, showing female hearts have higher fatty acid oxidation gene expression and energy utilization compared to male hearts.

The paper re-examines the boundary of the human pseudoautosomal region 1 (PAR1) using genomic data and finds evidence supporting its original position, narrowing it to a 201-bp window.

The paper identifies sex-chromosomal and autosomal gene responses to Xi and Y dosage in four human cell types, showing robustness in sex-chromosomal effects and cell-type-specific autosomal responses.

The paper shows that the inactive X and Y chromosomes similarly affect autosomal gene expression in human cells through shared transcription factors.

The paper shows that the inactive X chromosome modulates the expression of the active X chromosome in humans, affecting 38% of X-linked genes and contributing to sex differences in disease.

SHIMS 3.0 uses ultra-long nanopore reads to improve assembly of structurally complex genomic regions with high accuracy and reduced manual effort.

The paper identifies 26 conserved palindromes on the human X Chromosome and finds that natural selection preserves protein-coding gene families within them, while spacers show structural instability.

The paper shows GC-biased gene conversion drives GC content elevation in X-chromosome palindromes across human, chimpanzee, and rhesus macaque.

The paper introduces SHIMS 2.0, a cost-effective and high-throughput method for generating high-quality reference sequences from complex genomic regions.