1) Thursday, January 23, 2014 at 11:00 Speaker: Jonathan Pevsner from Johns Hopkins University Building 38A, B2 NCBI Library (B2N14)
Somatic mutation in GNAQ causes Sturge-Weber syndrome and port-wine stain birthmarks: the role of somatic variation in disease
Sturge-Weber syndrome is a rare neurocutaneous disease (affecting 1:20,000 people) that is associated with a commonly occurring port-wine stain birthmark (affecting 1:333 people). It has been hypothesized that these conditions are caused by somatic mosaic mutations. We used whole genome sequencing of paired affected/unaffected samples to identify somatic mutations in GNAQ as the cause of SWS and PWS. GNAQ encodes the alpha subunit of a heterotrimeric G protein subunit, Gq. The mutation is mildly activating and modulates intracellular signaling pathways. This presentation will also briefly describe (1) somatic variation in lymphoblastoid cell lines and (2) triPOD software that detects somatic variation in SNP data.
2) CBB Seminar on Thursday, February 13, 2014 at 11:00 Speaker: Kira S Makarova Location: B2 NCBI Library (B2N14)
Evolution and comparative genomics of DNA replication components in archaea