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Your search keyword '"X Chromosome Inactivation"' showing total 5 results
Start Over Descriptor "X Chromosome Inactivation" Language japanese
5 results on '"X Chromosome Inactivation"'

1. The development of DNA diagnostic system for female patients with pyruvate dehydrogenase α subunit deficiency

Subjects
PDH E1α subunit, DNA diagnosis, X chromosome inactivation, Pyruvate dehydrogenase (PDH) complex
Abstract

Pyruvate dehydrogenase (PDH) complex deficiency is one of the important causes of congenital lactic acidemia and mostly due to defect in the α subunit of PDH (E1α), of which gene is located on the X chromosome. The diagnosis of the PDH E1α deficiency is usually established by the measurement of the PDH complex activity in cultured cells. However, some female patients, who are heterozygous for the mutant allele, cannot be diagnosed only by the assay of PDH complex activity, because of the skewed X-chromosome inactivation in cultured cells. Then, we established DNA diagnostic system for PDH E1α deficiency using X inactivation assay, no RI PCR-SSCP, and direct sequencing. With this DNA diagnostic system we could diagnose 4 female patients as PDH E1α deficiency from 14 female patients who were suspected PDH complex deficiency from the clinical features and concentrations of lactate and pyruvate in the blood but showed normal PDH complex activity in their cultured cells. These results indicate that this DNA diagnostic system for PDH E1 αdeficiency is very useful.

Published
2000

2. [New Approach to the Investigation of DOHaD Using X-inactivation Gene Expression System].

Author

Kumamoto T and Oshio S

Subjects
Animals, Benzhydryl Compounds adverse effects, Brain embryology, Brain growth & development, Epigenesis, Genetic, Female, Folic Acid Deficiency genetics, Gene Expression Regulation, Developmental, Genes, X-Linked, Humans, Immune System embryology, Immune System growth & development, Metabolism genetics, Phenols adverse effects, Pregnancy, Reproduction genetics, Prenatal Nutritional Physiological Phenomena, RNA, Long Noncoding genetics, RNA, Long Noncoding metabolism, X Chromosome genetics, X Chromosome Inactivation genetics
Abstract

X-chromosome inactivation (XCI) occurs during the gestation period to compensate for the dosage of X-linked genes in female mammals. Xist RNA is a long noncoding RNA with a global epigenetic function and is indispensable for XCI from the initiation to establishment and maintenance phases. The X chromosome contains over 1,000 genes that are essential for proper development, especially that of the brain, immune system, metabolism and reproductive functions. We found that exposure to bisphenol A or folate deficiency during the fetal period changes the expressions of Xist, Tsix (the antisense repressor of Xist), and many X chromosome linked genes widely in newborn mice. This finding suggests that this X-chromosome mediated effect is considered one of the mechanisms of various problems encountered in the fetal environment. The Developmental Origins of Health and Disease (DOHaD) hypothesis states that nutrition and other environmental stimuli during critical periods affect developmental pathways with epigenetics and induce metabolism and chronic disease susceptibility. The XCI process has some similarities to this hypothesis and it may become one of the approaches to reveal the DOHaD mechanisms.

Published
2018
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3. [Epigenetic regulation during spermatogenesis].

Author

Takada Y and Koseki H

Subjects
Animals, Carrier Proteins metabolism, Chromatin genetics, Male, Meiosis genetics, Mice, Polycomb-Group Proteins, Recombination, Genetic, Repressor Proteins physiology, Spermatocytes cytology, Ubiquitin-Protein Ligases, X Chromosome Inactivation, Epigenesis, Genetic, Spermatogenesis genetics
Published
2007

5. [XX male].

Author

Nagai T and Ogata T

Subjects
Androgen Antagonists administration & dosage, Aromatase Inhibitors therapeutic use, Genes, sry genetics, Humans, Male, Testosterone administration & dosage, Testosterone analogs & derivatives, Urologic Surgical Procedures, Male, X Chromosome Inactivation, Gonadal Dysgenesis, 46,XX diagnosis, Gonadal Dysgenesis, 46,XX genetics, Gonadal Dysgenesis, 46,XX physiopathology, Gonadal Dysgenesis, 46,XX therapy
Published
2006

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