What is the Origin of Sex-Specific Genetic Effects?

The term combines 'sex-specific,' indicating a difference based on biological sex, with 'genetic effects,' referring to the phenotypic outcome of gene action. This concept is rooted in classical genetics and has been greatly expanded by modern genomics, which has revealed the pervasive influence of sex on the transcriptome and proteome across numerous tissues. The clinical relevance became pronounced with the recognition of sex differences in pharmacology and disease progression.

What is the Mechanism of Sex-Specific Genetic Effects?

The mechanism involves two primary biological pathways. Firstly, the presence of the $mathrm{Y}$ chromosome in males and the $mathrm{X}$ chromosome dosage in females directly dictates the

Sex-Specific Genetic Effects ∞ Area

Sex-Specific Genetic Effects

Meaning

Sex-specific genetic effects refer to the differential expression or functional impact of genes based on an individual’s biological sex, meaning the same genetic variant can lead to different physiological or clinical outcomes in males versus females. These effects are driven not only by genes located on the sex chromosomes (mathrmX and mathrmY) but also by the significant influence of sex steroid hormones on the expression of autosomal genes. Understanding these genetic distinctions is crucial in the hormonal health domain for developing personalized medicine strategies, as they explain sex differences in disease prevalence, metabolic function, and therapeutic responses to hormonal interventions.