Human HPRT is encoded by the HPRT1 gene, located on the long arm of the X chromosome, 12 and HPRT deficiency is inherited as a recessive X-linked trait. Thus, men are generally affected and women are ...
The gene dosage inequality between females with two X-chromosomes and males with one is compensated for by X-chromosome inactivation (XCI), which ensures the silencing of one X in every somatic cell ...