The role of Smchd1 in topological architecture of the inactive X chromosome. (360G-Wellcome-099682_Z_12_A)

£3,944

Recent evidence suggests that strictly regulated positioning of specific genetic loci respect to each chromosome territory, could be linked to their transcriptional status. With this study we therefore aim to investigate the relationship between gene positioning and transcriptional activation or repression. In detail, we are interested in following the relative positioningof specific sequences within the X-chromosome during its inactivation. X- Chromosome Inactivation (XCI) is, indeed, the mechanism through which all mammals compensate the different gene dosage between male (XY) and female individuals (XX), and a well-studied model of large-scale time-regulated gene repression. In detail, we will specifically assess the involvement of some candidate genes into this mechanism, such as SmchD1, which is known to be essential for maintaining gene repression on the Inactive-X in a Xist-independent fashion, as well as for a more general maintenance of chromosome structure. Indeed, preliminary data we got in the lab, suggest thatSmchD1 might have a major role in positioning the inactivated genes as soon asthey are silenced during XCI. For this purpose, we intend to take advantage ofsome recently developed techniques, such as 3D DNA-FISH, 4C sequencing and super-resolution microscopy.

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Grant Details

Amount Awarded 3944
Applicant Surname Pintacuda
Approval Committee PhD Studentships
Award Date 2014-01-17T00:00:00+00:00
Financial Year 2013/14
Grant Programme: Title PhD Studentship (Basic)
Internal ID 099682/Z/12/A
Lead Applicant Ms Greta Pintacuda
Partnership Value 3944
Planned Dates: End Date 2016-09-30T00:00:00+00:00
Planned Dates: Start Date 2013-10-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region South East
Sponsor(s) Prof Kim Nasmyth