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Dosage Compensation in Females with X-Linked Metabolic Disorders.

ABSTRACT: 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.

SUBMITTER: Juchniewicz P

PROVIDER: S-EPMC8123450 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz Patrycja P Piotrowska Ewa E Kloska Anna A Podlacha Magdalena M Mantej Jagoda J Węgrzyn Grzegorz G Tukaj Stefan S Jakóbkiewicz-Banecka Joanna J

International journal of molecular sciences 20210426 9

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 r ...[more]

PMID: 33925963

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Faced with inequality: chicken do not have a general dosage compensation of sex-linked genes.

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