X-inactivation of HSD17B10 revealed by cDNA analysis in two females with 17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 2010

X-inactivation of HSD17B10 revealed by cDNA analysis in two females with 17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency

Résumé

17β-hydroxysteroid dehydrogenase 10 (HSD10) is a mitochondrial enzyme involved in the degradation pathway of isoleucine and branched-chain fatty acids. The gene encoding HSD10, HSD17B10, has been reported as one of the few genes that escapes X-inactivation. We previously studied two females with HSD10 deficiency, one of them was severely affected and the other presented a mild phenotype. To elucidate why these two carriers were so differently affected, cDNA analyses were performed. The HSD17B10 cDNA of eight control cell lines, two hemizygous patients and two carriers was obtained from cultured fibroblasts, amplified by PCR and sequenced by standard methods. All HSD17B10 cDNAs were quantified by real-time PCR. In the fibroblasts of the female who presented with the severe phenotype, only the mutant allele was identified in the cDNA sequence which was further confirmed by Relative Quantification (RQ) of HSD17B10 cDNA. This is in agreement with an unfavourable X-inactivation. The other female, with slight clinical affectation, showed the presence of both mutant and wild-type alleles in the cDNA sequence, which was confirmed by RQ of HSD17B10 cDNA in fibroblasts. This result could be explained by the presence of a mosaicism. In addition, RQ results of HSD17B10 cDNA did not differ significantly between unaffected males and females, which indicates that the genetic doses of mRNA of HSD17B10 was the same in both sexes. In conclusion, these results suggest that the HSD17B10 gene does not escape X-inactivation as has been previously reported.
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Dates et versions

hal-00560307 , version 1 (28-01-2011)

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Antonia Ribes, Judit García-Villoria, Laura Gort, Irene Madrigal, Carme Fons, et al.. X-inactivation of HSD17B10 revealed by cDNA analysis in two females with 17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency. European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.118⟩. ⟨hal-00560307⟩

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