University of St Andrews

Dr Judith Sleeman
Lecturer in Cell and Developmental Biology

Biomolecular Sciences Building
University of St Andrews
North Haugh
St Andrews
KY16 9ST

Almost all mammalian genes contain introns, which are sequences represented in the DNA but not in the protein. These must be removed, or ‘spliced’, from the mRNA message before it can be translated. Accurate mRNA splicing requires a protein called Survival of Motor Neurons (SMN). Insufficient expression of SMN is responsible for the inherited neurodegenerative disease, spinal muscular atrophy (SMA). It is not clear how the loss of SMN protein leads to the disease. All cells need to splice their RNA correctly, but SMA specifically affects motor neurons. I'm studying the maturation of splicing factors, with a particular emphasis on their dynamics within the nucleus and differences between neural and non-neural cell types that may be significant for SMA



Sleeman, JE & Trinkle-Mulcahy, L 2014, 'Nuclear bodies: new insights into assembly/dynamics and disease relevance' Current Opinion in Cell Biology, vol 28, pp. 76-83., 10.1016/
Coleman, S, Prescott, AR & Sleeman, JE 2014, 'Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1' Biochemical Journal, vol 458, no. 2, pp. 267-280., 10.1042/BJ20130870
Prescott, AR, Bales, A, James, J, Trinkle-Mulcahy, L & Sleeman, JE 2014, 'Time-resolved quantitative proteomics implicates the core snRNP protein SmB together with SMN in neural trafficking.' Journal of Cell Science, vol 127, no. 4, pp. 812-827., 10.1242/jcs.137703
Sleeman, J 2013, 'Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy' Biochemical Society Transactions, vol 41, no. 4, pp. 871-875., 10.1042/BST20120016
Clelland, AK, Bales, ABE & Sleeman, JE 2012, 'Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy' Journal of Cell Science, vol 125, no. 11, pp. 2626-2637., 10.1242/jcs.096867
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