The pattern of X-inactivation in Human X-linked Disorders and their Model Organisms: A literature review

Abstract

X-inactivation is a strategy in female mammals aiming at maximizing gene inactivation of one single X chromosome in order to balance X dosage between males and females. Various human X-linked disorders have been reported related to one or more X-inactivation patterns. It is necessary to understand their relationship to study X-linked disorders. Current researches largely rely on clinical phenotype research and model organism. Considering the differences between human and model organisms, it is vital to find a suitable model of a specific disorder. The paper reviews different patterns and specific disorders linked with X-inac tivation. Also, the advantages and disadvantages of applying specific model organisms in different disorders will be discussed.