Jane Hewitt

Professor of Mammalian Genetics, Faculty of Medicine & Health Sciences

Personal Details
Research
Publications

Contact

work Room D98 Medical School
Queen's Medical Centre
Nottingham
NG7 2UH
UK
work 0115 823 0364
fax 0115 823 0338
jane.hewitt@nottingham.ac.uk

Biography

BA Oxford University 1982; PhD Cambridge University 1986; Research Associate, Washington University, St. Louis USA 1986-89; MRC Training Fellow, Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London 1989-1992; Lecturer, School of Biology, The University of Manchester, 1992-1998; Senior Lecturer (1998), Reader (2003), Professor (2004), Institute of Genetics, University of Nottingham. BBSRC Research Development Fellow (2004).

Research Summary

Selected Publications

COURT, F, HEWITT, J, KAY DAVIES, K, PATTON, B, UNCINI, A and WRABETZ, L. AND FELTRI, M.L., 2009. (External) A Laminin-2, Dystroglycan, Utrophin Axis is Required for Compartmentalization and Elongation of Myelin Segments Journal of Neuroscience. 29, 3908-3919
A LEIDENROTH, H S SORTE, G GILFILLAN, M EHRLICH, R LYLE and J E HEWITT, 2011. Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole exome analysis. European Journal of Human Genetics. In press,
LEIDENROTH, A. and HEWITT, J.E., 2010. (External) A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene BMC Evolutionary Biology. 10, 34
R, HARRISON, PG HITCHEN, M PANICO, HR MORRIS, D MEKHEIL, RJ PLEASS, A DELL, JE HEWITT and SM HASLAM, 2012. (External) Glycoproteomic characterisation of recombinant mouse alpha-dystroglycan. Glycobiology. in press

View all publications

Current Research

My research investigates the genetic basis of disease, especially the inherited muscular dystrophies where we focus on two types. Mutations in at least five glycosylation enzymes results in abnormal modification of the key muscle protein dystroglycan and are associated with a large number of congenital muscular dystrophies. We are studying the function of one of these glycosyltransferases (LARGE).

We are also interested in the autosomal dominant neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD), the third most common type of muscular dystrophy. The genetic mutation that causes FSHD is unique and involves a deletion within a tandem DNA repeat (D4Z4) on chromosome 4q35. FSHD is caused when an individual has fewer than 10 of these repeats; the mechanism hereby this deletion causes the disease is still unknown but may involve epigenetic mechanisms.

R, HARRISON, PG HITCHEN, M PANICO, HR MORRIS, D MEKHEIL, RJ PLEASS, A DELL, JE HEWITT and SM HASLAM, 2012. (External) Glycoproteomic characterisation of recombinant mouse alpha-dystroglycan. Glycobiology. in press
A LEIDENROTH, H S SORTE, G GILFILLAN, M EHRLICH, R LYLE and J E HEWITT, 2011. Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole exome analysis. European Journal of Human Genetics. In press,
LEIDENROTH, A. and HEWITT, J.E., 2010. (External) A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene BMC Evolutionary Biology. 10, 34
HEWITT JE, 2010. (External) Investigating the functions of LARGE: lessons from mutant mice. Methods in Enzymology. 479, 367-386
MASNY, P S, CHAN, OYA, DE GREEF, J C, BENGTSSON, U, EHRLICH, M, TAWIL, R, LOCK, L F, HEWITT, J E, STOCKSDALE, J, MARTIN, J H, VAN DER MAAREL S M, AND WINOKUR, S., 2010. (External) Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei European Journal of Human Genetics. 18, 448-456
MOORE, C.J. AND HEWITT, J.E., 2009. Dystroglycan glycosylation and muscular dystrophy Glycoconjugate Journal. 26, 349-357
HEWITT, J.E., 2009. (External) Abnormal glycosylation of dystroglycan in human genetic disease Biochimica et Biophysica Acta - Molecular Basis of Disease. 1792, 853-861
COURT, F, HEWITT, J, KAY DAVIES, K, PATTON, B, UNCINI, A and WRABETZ, L. AND FELTRI, M.L., 2009. (External) A Laminin-2, Dystroglycan, Utrophin Axis is Required for Compartmentalization and Elongation of Myelin Segments Journal of Neuroscience. 29, 3908-3919
MOORE, C.J and GOH, H.T. AND HEWITT, J.E., 2008. (External) Genes required for functional glycosylation of dystroglycan are conserved in zebrafish Genomics. 92, 159-167
IMPERIALI, M, SPORRI, R and HEWITT, J. AND OXENIUS, A., 2008. (External) Post-translational modification of alpha-dystroglycan is not critical for lymphocytic choriomeningitis virus receptor function in vivo Journal of General Virology. 89, 2713-2722
CLAPP, J., MITCHELL, L.M., BOLLAND, D.J., FANTES, J., CORCORAN, A.E., SCOTTING, P.J., ARMOUR, J.A.L. and HEWITT. J.E., 2007. (External) Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy American Journal of Human Genetics. 81(2), 264-279
VAN REEUWIJK,, GREWAL,, SALIH,, BELTRÁN-VALERO DE BERNABÉ,, MCLAUGHLAN,, MICHIELSE,, HERRMANN,, HEWITT,, STEINBRECHER,, SEIDAHMED,, SHAHEED,, ABOMELHA,, BRUNNER, and VAN BOKHOVEN,, 2007. (External) Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Human Genetics. 121, 685-690
GREWAL, P.K., MCLAUGHLAN, J.M., MOORE, C.J., BROWNING, C.A. and HEWITT, J.E., 2005. (External) Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies Glycobiology. 15(10), 912-923
BROWNING, C.A., GREWAL, P.K., MOORE, C.J. and HEWITT, J.E., 2005. (External) A rapid PCR method for genotyping the Large<sup>myd</sup> mouse, a model of glycosylation-deficient congenital muscular dystrophy Neuromuscular Disorders. 15(5), 331-335
HEWITT,J.E., 2004. Evolution and structural organization of homeobox-containing repeat D4Z4. In: UPADHYAYA,M. and COOPER,D.N., eds., Facioscapulohumeral Muscular Dystrophy (FSHD): clinical medicine and molecular cell biology London: Bios Scientific Publishers. 85-95
VANGEEL,M. and HEWITT,J.E., 2004. Genomic analysis of the subtelomeric regions of human chromosomes 10q and 4q: relevance to FSHD. In: UPADHYAYA,M. and COOPER,D.N., eds., Facioscapulohumeral Muscular Dystrophy (FSHD): clinical medicine and molecular cell biology London: Bios Scientific Publishers. 107-116
RIJKERS, T., DEIDDA, G., VAN KONINGSBRUGGEN, S., VAN GEEL, M., LEMMERS, R. J. L. F., VAN DEUTEKOM, J. C. T., FIGLEWICZ, D., HEWITT, J. E., PADBERG, G. W. and FRANTS, R. R., 2004. (External) FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients Journal of Medical Genetics. VOL 41(PART 11), 826-836
GREWAL, P. K. and HEWITT, J. E., 2003. (External) Glycosylation defects: a new mechanism for muscular dystrophy? Human Molecular Genetics. VOL 12(SPI/2), R259-R264
CLAPP, J., BOLLAND, D. J. and HEWITT, J. E., 2003. (External) Genomic analysis of facioscapulohumeral muscular dystrophy Briefings in Functional Genomics and Proteomics. VOL 2(NUMB 3), 213-223
SAMPSON, N. D. and HEWITT, J. E., 2003. (External) SF4 and SFRS14, two related putative splicing factors on human chromosome 19p13.11 Gene. VOL 305(NUMBER 1), 91-100
WHEATLEY, A.P., BOLLAND, D.J., HEWITT, J.E., DEWAR, J.C. and HALL, I.P., 2002. (External) Identification of the autoantigen SART-1 as a candidate gene for the development of atopy Human Molecular Genetics. 11(18), 2143-2146
HOLZFEIND, P.J., GREWAL, P.K., REITSAMER, H.A., KECHVAR, J., LASSMANN, H., HOEGER, H., HEWITT, J.E. and BITTNER, R.E., 2002. (External) Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large<sup>myd</sup> mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders Human Molecular Genetics. 11(21), 2673-2687
SUTTON-SMITH,M., MORRIS,H.R., GREWAL,P.K., HEWITT,J.E., BITTNER,R.E., GOLDIN,E., SCHIFFMANN,R. and DELL,A., 2002. MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains. In: DRICKAMER, K. and DELL, A., eds., Glycogenomics: The Impact of Genomics and Informatics on Glycobiology London: Portland Press. 105-115
GREWAL, P. K. and HEWITT, J. E., 2002. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy Biochimica et Biophysica Acta. VOL 1573(NUMBER 3), 216-224
FENTON, R. A., COTTINGHAM, C. A., STEWART, G. S., HOWORTH, A., HEWITT, J. A. and SMITH, C. P., 2002. Structure and characterization of the mouse UT-A gene (Slc14a2) American Journal of Physiology. VOL 282(ISSU 4), F630-F638
BADENHOP, R. F., MOSES, M. J., SCIMONE, A., ADAMS, L. J., KWOK, J. B. J., JONES, A.-M., DAVISON, G., EVANS, M. R., KIRKBY, K. C. and HEWITT, J. E., 2002. Genetic Refinement and Physical Mapping of a 2.3 Mb Probable Disease Region Associated With a Bipolar Affective Disorder Susceptibility Locus on Chromosome 4q35 AMERICAN JOURNAL OF MEDICAL GENETICS. VOL 117(PART 1), 23-32
VAN GEEL, M., DICKSON, M.C., BECK, A.F., BOLLAND, D.J., FRANTS, R.R., VAN DER MAAREL, S.M., DE JONG, P.J. and HEWITT, J.E., 2002. (External) Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 79(2), 210-217
GREWAL, P.K., HOLZFEIND, P.J., BITTNER, R.E. and HEWITT, J.E., 2001. (External) Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse Nature Genetics. 28(2), 151-154
CHIDGCY, M., BRAKEBUSCH, C., GUSTAFSSON, E., CRUCHLEY, A., HAIL, C., KIRK, S., MERRITT, A., NORTH, A., TSELEPIS, C. and HEWITT, J., 2001. (External) Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation Journal of Cell Biology. VOL 155(PART 5), 821-832
BOLLAND, D. J. and HEWITT, J. E., 2001. (External) Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridis Gene. VOL 271(NUMBER 1), 43-49

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