The genetic makeup of people is significantly influenced by gender, which is also reflected in numerous genetic illnesses, most notably mental retardation. This study investigated its impact on copy number variation, which is known to cause genetic diseases. The olfactory receptor repertoire, which is made up of the biggest gene family in the human genome, was chosen for this study because it was conducted within and between 3 groups made up of 150 participants in the 1000 Genomes Project. The following novel findings were discovered through analysis of 3872 CNVs found among 791 OR loci, of which 307 loci indicated CNV: Both results suggest that gender has played a more recent evolutionary role. Sex bias in CNV was significantly more prevalent in one-copy number loss compared to complete deletion of OR pseudogenes and in uncommon than common CNV variants of OR pseudogenes, in which the male genome displayed more CNVs. Additionally, sex bias in copy number gain was found. Another surprising discovery was that ethnicity played a significant role in the observed sex prejudice, which was generally absent in East Asians. The use of these discoveries for enhancing clinical molecular diagnoses is highlighted using an example of sex bias in CNV among children with autism and a public CNV database for unwell children (International Standard Cytogenomic Array Consortium). Additional clinical relevance is discussed because the Prader-Willi syndrome/Angelman syndrome bi-directionally imprinted region, which is linked to two well-known mental retardation syndromes, is located close to the most polymorphic CNV-enriched OR cluster in the human genome, which is located on chr. The extensive retention of OR pseudogenes in females of this study may indicate a parent-of-origin indirect regulatory role for OR pseudogenes in the embryonic development of the human brain. Olfaction represents a primitive form of cognition in most mammals, possibly competing with the development of a larger brain. Therefore, any disruption in the olfactory system's temporal regulation could cause developmental delay issues, including mental retardation.
