Reference:
E.0869
Abstract:
Our interest is to clarify the biology of the second human pseudoautosomal region, located at the end of long arm of the X chromosome and its involvment in genetic pathologies. Genes located in this region show different transcriptional behaviour, escaping or not the X inactivation. Such effects could be likely caused by epigenetic factors and/or position effect variegation. The XqPAR may be thus a model region for studying these mechanisms in aetiology of genetic diseases. XQPAR genes seem also to be involved in the Rett syndrome, a neurological disorder recently linked to the distal Xq28 region. Our working hypothesis also follows a genetic model which explains the female selectivity of this disease, and directly involves genes we identified in the XqPAR.
PROJECT DETAILS
beginning: 1999.
end: 2002.
Country of research: Italy
Counry of funding source: Italy
Funding organization: Telethon
Financing: PRIVATE FUNDERS – 185 924 €