Loss of Chromosome Y and Its Potential Applications as Biomarker in Health and Forensic Sciences

Abstract

necessity to clarify the molecular mechanism behind its occurrence and its possible applications in both health and forensic studies.

Deletion of Y chromosome before allogeneic hematopoietic stem cell transplantation in male recipients with female donors

“…The lack of a reduced incidence of GVHD in this study might be explained by the tissue distribution of Del(Y). Generally, Del(Y) is considered to present mainly in blood cells, and most studies on Del(Y) used blood samples 12,13 . Since there is limited information on Del(Y) in peripheral tissues other than blood cells, donor cells are likely to be sensitized by H-Y antigens and Del(Y) might have only limited impact on the incidence of GVHD.…”

“…Generally, del(Y) is considered to present mainly in blood cells, and most studies on del(Y) have used blood samples. 12,13 Because there is limited information on del(Y) in peripheral tissues other than blood cells, donor cells are likely to be sensitized by H-Y antigens, and del(Y) might have only a limited impact on the incidence of GVHD. However, several studies have reported that del(Y) was found in tissues besides blood cells, such as buccal mucosa and brain.…”

“…Del(Y) is a common mutation in somatic cells that increases with aging. 12 However, the significance of del(Y) in the GVL effect remains to be elucidated. Moreover, del(Y) has been associated with age-related diseases, such as cancer, cardiovascular disease, Alzheimer disease, and diabetes.…”

Transcending the Male–Female Binary in Biomedical Research: Constellations, Heterogeneity, and Mechanism When Considering Sex and Gender

“…There are forms of aneuploidy that generate combinations other than XX or XY, and genetic variants can mediate reproductive development in diverse ways, as in androgen insensitivity syndrome, XX male syndrome (de la Chapelle syndrome), congenital adrenal hyperplasia, and persistent Mullerian duct syndrome, among others. Further, loss of the Y chromosome in a proportion of cells is a known occurrence with age in otherwise healthy males [ 15 ]), and many of these traits vary within the same individual across the lifespan.…”

A reply to: Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

“…LOY can be quantified either using classical molecular cytogenetics [3] or genomics data (for instance, Whole Genome Sequencing/WGS data or the mean intensity log-R ratio (mLRR) OF micro-array probes) [6]. Several formulas have been proposed to translate mLRR into LOY(%).…”