Dosage Compensation in Females with X-Linked Metabolic Disorders

International Journal of Molecular Sciences

Joanna Jakóbkiewicz-Banecka¹  Anna Kloska¹  Patrycja Juchniewicz¹  Ewa Piotrowska²  Jagoda Mantej²  Magdalena Podlacha²  Stefan Tukaj²  Grzegorz Węgrzyn² 

[1]Department of Medical Biology and Genetics, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland

[2]Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland

关键词: X chromosome inactivation;    XCI;    metabolic disorders;    inborn errors of metabolism;    X-linked inheritance;   

DOI  :  10.3390/ijms22094514

来源: DOAJ

【 摘 要 】

Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization) is an epigenetic mechanism that balances the expression of genes on heteromorphic sex chromosomes. Many studies in the literature have suggested a profound influence of this phenomenon on the manifestation of X-linked disorders in females. In this review, we summarize the clinical and genetic findings in female heterozygotic carriers of a pathogenic variant in one of ten selected X-linked genes whose defects result in metabolic disorders.

【 授权许可】

Unknown