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Epigenetic analysis of the Critical Region I for Premature Ovarian Failure (POF): demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.

PRAMPARO, TIZIANO;ZUFFARDI, ORSETTA;BELLAZZI, RICCARDO;
2009-01-01
2009
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
JOURNAL OF MEDICAL GENETICS
sì
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
46
585
592
18628312
X chromosome rearrangements defined a critical region for premature ovarian failure (POF) that extended for >15 Mb in Xq. We have previously shown that the region could be divided into two functionally distinct portions and suggested that balanced translocations interrupting its proximal part, critical region 1 (CR1), could be responsible for POF through down regulation of ovary expressed autosomal genes translocated to the X chromosome. We report now that such position effect can indeed be demonstrated by analysis of breakpoint regions in somatic cells of POF patients and by the finding that the CR1 has a highly heterochromatic organization, very different from that of the euchromatic autosomal regions involved in the rearrangements. The chromatin organization of the POF CR1 is likely to be responsible of the epigenetic modifications observed in POF patients. The characteristics of the CR1 and its down regulation in oocytes very well explain its role in POF and the frequency of the POF phenotype in chromosomal rearrangements involving Xq. We also demonstrate a large and evolutionary conserved domain of the long arm of the X chromosome, largely corresponding to the CR1, that may have structural or functional roles, in oocyte maturation or in X chromosome inactivation.
Epigenetic analysis; Premature Ovarian Failure; X chromosome
10
info:eu-repo/semantics/article
262
Flavio, Rizzolio; Pramparo, Tiziano; Cinzia, Sala; Zuffardi, Orsetta; Lucia, Desantis; Elisa, Rabellotti; Federico, Calzi; Francesco, Fusi; Bellazzi, ...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
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1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/135324
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