Why Y? Down-regulation of chromosome Y genes potentially contributes to elevated cancer risk

Menée notamment à partir de données d'expression génique, de plusieurs études avec expression tumorale et tissulaire normale du projet "The Cancer Genome Atlas" (12 types de cancer), cette étude analyse l'association entre l'"extrême" régulation négative de l'expression des gènes du chromosome Y et le risque de cancer

Résumé en anglais

On average, men die earlier than women. While differences in environmental, life-style, and exposure factors certainly explain some of the earlier mortality of men, recent population-based genomic investigations suggest somatic mutations could also influence this reduced overall life expectancy of men. In particular, an expanding body of evidence suggests somatic loss of the sex-determining Y chromosome, referred to as mosaic loss of Y (LOY), might be an important biomarker for elevated mortality rates among men, perhaps indirectly or through events on the Y chromosome itself. LOY is the most common copy number alteration in male leukocytes and is characterized by a mosaic mixture of normal cells with one copy of the Y chromosome and mutant cells with loss of the entire Y chromosome. LOY detected in peripheral leukocytes has been associated in early studies with hematologic malignancies as well as non-hematologic disorders, including solid tumors, Alzheimer’s disease and cardiovascular disease. However, further larger studies are needed to confirm these reports.