Polymorphic X-chromosome inactivation of the human TIMP1(ital) gene

Article Abstract:

Polymorphic X-chromosome inactivation of the human tissue inhibitor of metalloproteinases (TIMP1(ital)) gene in humans is discussed. Many genes that avoid X-inactivation are clustered, so the expression of four genes within about 100 kb of TIMP1(ital) has been studied and they were expressed only from the active X chromosome, so factors that allow TIMP1(ital) expression from the inactive X chromosome are specific to the SIMP1 gene and it seems TIMP1 inactivation is polymorphic in human females.

Canada, Statistical Data Included, Research, Usage, Genetic aspects, Chromosome mapping, Genetic disorders, Genetic polymorphisms, Metalloenzymes, Dosage compensation (Genetics)

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NTBC and alkaptonuria

Article Abstract:

2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) is a potential treatment for alkaptonuria, in conjunction with restriction of phenylalanine and tyrosine in the diet. NTBC, a member of the triketone class of herbicides, inhibits 4-hydroxyphenylpyruvate dioxygenase, which should prevent homogentisic acid from being produced. Homogentisic acid is believed to be responsible for the symptoms of alkaptonuria. NTBC has been found effective in the treatment of tyrosinemia type I.

Health aspects, Drug therapy, Herbicides, Metabolic diseases

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