Resumen

DEL BARCO GOMEZ, Sergio; ENCINAS VARGAS, Dorian Victor; EGUINO ARENAS, José Manuel  y  DE LA TORRE UREY, Cesar Alejandro. Analysis of hsd17b10 gene: an example of epigenetic regulation by methylation of cpg segments and its relationship with x-linked pathologies. SCIENTIFICA [online]. 2014, vol.12, n.1, pp. 70-76. ISSN 1813-0054.

ABSTRACT HSD17B10 gene is located in Xp 11.2 and codi-fies the HSDlO enzyme.lt has been reported as one of the few genes that escapes the inactiva-tion of X chromosome. This gene presents a lot of CpG regions (Cytosine - phosphate - Guani-dine) in its molecular structure. Dinucleo-tidsbelonging to the CpG segments are methyl-ated in 5 position of the cytosine; this process is associated to the transcriptional repression and to the inactivation of chromatin conformation. HSDlO is a multifunctional enzyme that cata-lyzes important processes such as the isoleu-cine catabolism, oxidation of allopregnenolone in to sadihydroprogesterone. Moreover, it has been demonstrated that this enzyme can be joined to the amyloid peptideP and the alpha estrogen receptor. As a result of these func-tions, the deficiency of this enzyme its translat-ed into diverse alterations of mental function which are common in the alteration of amino-acids metabolism. Furthermore, this has been related to other pathologies like Alzheimer and Parkinson diseases. The X chromosome inactivated by methylation (Xi) presents genes capable of escaping to the inactivation. The CpGhypomethylation, corre-lated to the expression of genes belonging to Xi,gives raise to a series of clinical pathologies such as the deficiency of the enzyme production and other X-linked pathologies. The objective of this revisión is to highlight the importance of the methylation of CpG segments as a mechanism of epigenetic regulation.

Palabras llave : X sexual chromosome; DNA methylation; Epigenetic repression; Gene silencing.