Research Interests
Keywords: Genetics and Cell Biology of RNP assembly and transport, animal models of a human disease – Spinal Muscular Atrophy, developmental regulation of post-transcriptional histone modifications
We use three different model systems (fruitfly, mouse and human) to study the molecular, cellular and developmental biology of small nuclear ribonucleoproteins (snRNPs). Why are snRNPs so interesting?
- Without snRNPs, pre-mRNA splicing (and thus eukaryotic life) would not be possible.
- The biogenesis of snRNPs is a paradigm for assembly of other factors, such as micro RNPs.
- A reduced capacity for snRNP biogenesis is associated with a neurogenetic disorder, called Spinal Muscular Atrophy (SMA).
Small nuclear ribonucleoproteins (snRNPs; pronounced ‘snurps’) are required for pre-messenger RNA splicing and are thus essential components of all eukaryotic cells. Whereas the basic mechanics of splicing are fairly well-understood, the biogenesis of snRNPs is relatively unclear. The long-term goal of our laboratory is to understand the molecular mechanisms that govern the assembly and subcellular localization of small RNPs. In short, we seek to uncover the process by which snRNPs are packaged, transported and delivered to their nuclear sites of action. Curiously, the initial phases of snRNP biogenesis actually begin in the cytoplasm, following nuclear export of the pre-snRNA transcript. Assembly into stable RNP particles is mediated by the Survival Motor Neurons (SMN) protein complex. Subsequently, these small RNPs are imported back into the nucleus. Defects in the assembly of Sm-class small RNPs are associated with a neuromuscular disorder called Spinal Muscular Atrophy (SMA). Patients with SMA typically die in childhood. Although snRNP biogenesis is compromised in patient-derived cells, the underlying cause of the SMA phenotype is not understood. Thus a detailed understanding of snRNP metabolism is essential not only to the study of RNA processing, but will also be important in developing treatments for neuromuscular disease. To gain insight into the biogenesis of snRNPs and its role in the pathogenesis of SMA, we have developed models in Drosophila and mammalian systems to study small RNP trafficking and assembly.
Mentor Training:
A. Greg Matera in UNC Genetics News
August 5, 2024
Department of Genetics Publications for July 21st – August 3rd, 2024
Department of Genetics faculty, postdocs, students and collaborators published 13 papers during July 21st - August 3rd 2024.
April 29, 2024
Department of Genetics Publications for April 14th – 27th, 2024
Department of Genetics faculty, postdocs, students and collaborators published 12 papers during April 14th - 27th 2024.
March 3, 2024
Department of Genetics Publications for February 18th – March 2nd, 2024
Department of Genetics faculty, postdocs, students and collaborators published 11 papers during February 18th - March 2nd 2024.
October 23, 2023
Department of Genetics Publications for October 8th – 21st, 2023
Department of Genetics faculty, postdocs, students and collaborators published 9 papers during October 8th - 21st 2023.
June 19, 2023
Department of Genetics Publications for June 4th – 17th, 2023
Department of Genetics faculty, postdocs, students and collaborators published 10 papers during June 4th - 17th, 2023.
June 4, 2023
Department of Genetics Publications for May 21st – June 3rd, 2023
Department of Genetics faculty, postdocs, students and collaborators published 15 papers during May 21st – June 3rd, 2023.
March 13, 2023
Department of Genetics Publications for February 26th – March 11th, 2023
Department of Genetics faculty, postdocs, students and collaborators published 12 papers during February 26th – March 11th, 2023.
January 30, 2023
Department of Genetics Publications for January 15th – 28th, 2023
Department of Genetics faculty, postdocs, students and collaborators published 16 papers during January 15th – 28th, 2023.
April 25, 2022
Department of Genetics Publications April 10th – 23rd, 2022
Department of Genetics faculty, postdocs, students and collaborators published 18 papers during April 10th – 23rd, 2022.
April 11, 2022
Department of Genetics Publications March 27th – April 9th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 17 papers during March 27th – April 9th, 2022.