Does the HSD17B10 gene escape from X-inactivation

European Journal of Human Genetics

Volumn 19, Issue 2, 2011, Pages 123-124

  He, Xue Ying ^a   Dobkin, Carl ^a   Yang, Song Yu ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

17BETA HYDROXYSTEROID DEHYDROGENASE 10; HYDROXYSTEROID DEHYDROGENASE; UNCLASSIFIED DRUG;

17BETA HYDROXYSTEROID DEHYDROGENASE 10 DEFICIENCY; CHROMOSOME MOSAICISM; ENZYME DEFICIENCY; FIBROBLAST; GENE CLUSTER; GENE EXPRESSION; GENETIC ANALYSIS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; LETTER; PRIORITY JOURNAL; RISK FACTOR; X CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

3-HYDROXYACYL COA DEHYDROGENASES; CHROMOSOMES, HUMAN, X; DNA, COMPLEMENTARY; FEMALE; GENE DOSAGE; HUMANS; MALE; MENTAL RETARDATION; MUTATION; X CHROMOSOME INACTIVATION;

EID: 78651384511     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.192     Document Type: Letter

References (6)

1. Garcia-Villoria J, Gort L, Madrigl I et al: X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17beta-hydroxysteroid dehydrogenase .10. deficiency. Eur J Hum Genet 2011; 19: 124.
2. Miller AP, Willard HF: Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation. Proc Natl Acad Sci USA 1998; 95: 8709-8714.
3. Carrel L, Willard HF: X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005; 434: 400-404.
4. Yang SY, He XY, Miller D: HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol Genet Metab 2007; 92: 36-42.
5. Yang SY, He XY, Olpin SE et al: Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. Proc Natl Acad Sci USA 2009; 106: 14820-14824.
6. Froyen G, Corbett M, Vandewalle J et al: Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 2008; 82: 432-443.