Edinburgh Research Explorer

Prof Catherine Abbott

Personal Chair of Mammalian Molecular Genetics

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Catherine Abbott

  • Deanery of Molecular, Genetic and Population Health Sciences
  • Centre for Genomic and Experimental Medicine
  • Euan MacDonald Centre for Motor Neurone Disease Research
  • Edinburgh Neuroscience
Postal address:
Crewe Road
Centre for Genomic and Experimental Medicine
United Kingdom

Email: C.Abbott@ed.ac.uk, C.Abbott@ed.ac.uk

Phone: 01316518745, 0131 651 8745

Web address: http://www.ed.ac.uk/centre-genomic-medicine/research-groups/abbott-group


Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

Davies, F., Hope, J., McLachlan, F., Nunez, F., Doig, J., Bengani, H., Smith, C. & Abbott, C. 5 Apr 2017 In : Scientific Reports. 46019

Efficient and versatile CRISPR engineering of human neurons in culture to model neurological disorders

Shah, R., Cholewa-Waclaw, J., Davies, F., Paton, K., Chaligne, R., Heard, E., Abbott, C. & Bird, A. 15 Nov 2016 In : Wellcome Open Research .

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

DDD study & Abbott, C. 3 Apr 2016 In : Molecular Genetics & Genomic Medicine.

Specific Interaction between eEF1A and HIV RT Is Critical for HIV-1 Reverse Transcription and a Potential Anti-HIV Target

Li, D., Wei, T., Rawle, D. J., Qin, F., Wang, R., Soares, D. C., Jin, H., Sivakumaran, H., Lin, M-H., Spann, K., Abbott, C. M. & Harrich, D. 1 Dec 2015 In : PLoS Pathogens. 11, 12, e1005289

Characterisation of Translation Elongation Factor eEF1B Subunit Expression in Mammalian Cells and Tissues and Co-Localisation with eEF1A2

Cao, Y., Portela, M., Janikiewicz, J., Doig, J. & Abbott, C. 1 Dec 2014 In : PLoS One. 9, 12, e114117

The translation elongation factor eEF1A1 couples transcription to translation during heat shock response.

Vera, M., Pani, B., Griffiths, L. A., Muchardt, C., Abbott, C., Singer, R. & Nudler, E. 2014 In : eLIFE.

In vivo characterization of the role of tissue-specific translation elongation factor 1A2 in protein synthesis reveals insights into muscle atrophy

Doig, J., Griffiths, L. A., Peberdy, D., Dharmasaroja, P., Vera, M., Davies, F. J. C., Newbery, H. J., Brownstein, D. & Abbott, C. M. Dec 2013 In : Febs Journal. 280, 24, p. 6528-6540 13 p.

Highly homologous eEF1A1 and eEF1A2 exhibit differential post-translational modification with significant enrichment around localised sites of sequence variation

Soares, D. & Abbott, C. 13 Nov 2013 In : Biology direct. 8, 1, p. 29

Eukaryotic elongation factor 1 complex subunits are critical HIV-1 reverse transcription cofactors

Warren, K., Wei, T., Li, D., Qin, F., Warrilow, D., Lin, M-H., Sivakumaran, H., Apolloni, A., Abbott, C., Jones, A., Anderson, J. & Harrich, D. 2012 In : Proceedings of the National Academy of Sciences. 109, 24, p. 9587-9592

Haploinsufficiency for Translation Elongation Factor eEF1A2 in Aged Mouse Muscle and Neurons Is Compatible with Normal Function

Griffiths, L. A., Doig, J., Churchhouse, A. M. D., Davies, F. C. J., Squires, C. E., Newbery, H. J. & Abbott, C. M. 2012 In : PLoS One. 7, 7, p. e41917

Evolutionary importance of translation elongation factor eEF1A variant switching: eEF1A1 down-regulation in muscle is conserved in Xenopus but is controlled at a post-transcriptional level

Newbery, H. J., Stancheva, I., Zimmerman, L. B. & Abbott, C. M. 2011 In : Biochemical and Biophysical Research Communications. 411, 1, p. 19-24 6 p.

Eef1a2 Promotes Cell Growth, Inhibits Apoptosis and Activates JAK/STAT and AKT Signaling in Mouse Plasmacytomas

Li, Z., Qi, C-F., Shin, D-M., Zingone, A., Newbery, H. J., Kovalchuk, A. L., Abbott, C. M. & Morse, H. C. 21 May 2010 In : PLoS One. 5, 5, p. - 11 p., e10755

eEF1A2 and neuronal degeneration

Abbott, C. M., Newbery, H. J., Squires, C. E., Brownstein, D., Griffiths, L. A. & Soares, D. C. Dec 2009 In : Biochemical Society Transactions. 37, Pt 6, p. 1293-7 5 p.

Structural Models of Human eEF1A1 and eEF1A2 Reveal Two Distinct Surface Clusters of Sequence Variation and Potential Differences in Phosphorylation

Soares, D. C., Barlow, P. N., Newbery, H. J., Porteous, D. J. & Abbott, C. M. Jul 2009 In : PLoS One. 4, 7, p. 1-12 12 p., e6315

Multiple molecular dynamics simulation of the isoforms of human translation elongation factor 1A reveals reversible fluctuations between "open" and "closed" conformations and suggests specific for eEF1A1 affinity for Ca2+-calmodulin

Kanibolotsky, D. S., Novosyl'na, O. V., Abbott, C. M., Negrutskii, B. S. & El'skaya, A. V. 2008 In : BMC Structural Biology. 8, p. 4

Expression of eEF1A2 is associated with clear cell histology in ovarian carcinomas: overexpression of the gene is not dependent on modifications at the EEF1A2 locus

Tomlinson, V. A. L., Newbery, H. J., Bergmann, J. H., Boyd, J., Scott, D., Wray, N. R., Sellar, G. C., Gabra, H., Graham, A., Williams, A. R. W. & Abbott, C. M. 2007 In : British Journal of Cancer. 96, 10, p. 1613-20 8 p.

Translation elongation factor eEF1A2 is essential for post-weaning survival in mice

Newbery, H. J., Loh, D. H., O'Donoghue, J. E., Tomlinson, V. A. L., Chau, Y-Y., Boyd, J. A., Bergmann, J. H., Brownstein, D. & Abbott, C. M. 2007 In : Journal of Biological Chemistry. 282, 39, p. 28951-9 9 p.

Progressive loss of motor neuron function in wasted mice: effects of a spontaneous null mutation in the gene for the eEF1 A2 translation factor

Newbery, H. J., Gillingwater, T. H., Dharmasaroja, P., Peters, J., Wharton, S. B., Thomson, D., Ribchester, R. R. & Abbott, C. M. 2005 In : Journal of Neuropathology and Experimental Neurology. 64, 4, p. 295-303 9 p.

Translation elongation factor eEF1A2 is a potential oncoprotein that is overexpressed in two-thirds of breast tumours

Tomlinson, V. A. L., Newbery, H. J., Wray, N. R., Jackson, J., Larionov, A., Miller, W. R., Dixon, J. M. & Abbott, C. M. 2005 In : BMC Cancer. 5, p. 113

Genetic influences on ovulation of primary oocytes in LT/Sv strain mice

Everett, C. A., Auchincloss, C. A., Kaufman, M. H., Abbott, C. M. & West, J. D. 2004 In : Reproduction. 128, 5, p. 565-71 7 p.

Translation factors: in sickness and in health

Abbott, C. M. & Proud, C. G. 2004 In : Trends in biochemical sciences. 29, 1, p. 25-31 7 p.

A linkage map for the hybridising toads Bombina bombina and B. variegata (Anura: Discoglossidae): Discoglossidae)

Nürnberger, B., Hofman, S., Förg-Brey, B., Praetzel, G., Maclean, A., Szymura, J. M., Abbott, C. M. & Barton, N. H. 1 Aug 2003 In : Heredity. 91, 2, p. 136-142 7 p.

Of mice, men and motor neurons

Newbery, H. J. & Abbott, C. M. Oct 2001 In : Trends in Genetics. 17, 10, p. S2-S6 5 p.

Comparative genomic analysis of genes encoding translation elongation factor 1B(alpha) in human and mouse shows EEF1B1 to be a recent retrotransposition event

Chambers, D. M., Rouleau, G. A. & Abbott, C. M. 2001 In : Genomics. 77, 3, p. 145-8 4 p.

Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice

Pennisi, D., Gardner, J., Chambers, D., Hosking, B., Peters, J., Muscat, G., Abbott, C. & Koopman, P. 2000 In : Nature Genetics. 24, 4, p. 434-7 4 p.

Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli

Schmidt, K. H., Abbott, C. M. & Leach, D. R. 2000 In : Molecular Microbiology. 35, 2, p. 463-71 9 p.

BRK/Sik expression in the gastrointestinal tract and in colon tumors

Llor, X., Serfas, M. S., Bie, W., Vasioukhin, V., Polonskaia, M., Derry, J., Abbott, C. M. & Tyner, A. L. 1999 In : Clinical Cancer Research. 5, 7, p. 1767-77 11 p.

Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes

Hendrich, B., Abbott, C., McQueen, H., Chambers, D., Cross, S. & Bird, A. 1999 In : Mammalian Genome. 10, 9, p. 906-12 7 p.

Mouse chromosome 2

Siracusa, L. D., Abbott, C. M., Peters, J., Pomp, D., Zuberi, A. R., Church, D. & Koratkar, R. Dec 1998 In : Mammalian Genome. 8, Supplement 1, p. S27-S49

Encyclopedia of the mouse genome VII. Mouse chromosome 2

Peters, J., Siracusa, L. D., Pomp, D., Zuberi, A. R., Church, D., Koratkar, R. & Abbott, C. M. 1998 In : Mammalian Genome. 8 Spec No, p. S27-49

Evaluation of Lama5 as a candidate for the mouse ragged (Ra) mutation

Durkin, M. E., Albrechtsen, R., Chambers, D. M., Abbott, C. M. & Wewer, U. M. 1998 In : Biochemical and Biophysical Research Communications. 250, 1, p. 125-30 6 p.

Isolation of a microsatellite that reveals paralogy between the subtelomeric regions of mouse chromosomes 17 and 19: further evidence for telomere-telomere exchange in the mouse

Chambers, D. M., Kipling, D. & Abbott, C. M. 1998 In : Genomics. 53, 1, p. 113-4 2 p.

The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene

Chambers, D. M., Peters, J. & Abbott, C. M. 1998 In : Proceedings of the National Academy of Sciences. 95, 8, p. 4463-8 6 p.

Mapping in the region of Danforth's short tail and the localization of tail length modifiers

Alfred, J. B., Rance, K. A., Taylor, B. A., Phillips, S. J., Abbott, C. & Jackson, I. Feb 1997 In : Genome Research. 7, 2, p. 108-17 10 p.

Expression and mapping of the mouse S7/Pmsc2 gene, homolog of an essential mitotic gene in yeast

Allen, J., Colleaux, L., Davidson, D., Graham, E., Lee, M., Hill, R., Abbott, C. & Gordon, C. 1997 In : Mammalian Genome. 8, 5, p. 352-4 3 p.

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

Kent, J., Lee, M., Schedl, A., Boyle, S., Fantes, J., Powell, M., Rushmere, N., Abbott, C., van Heyningen, V. & Bickmore, W. A. 1997 In : Genomics. 42, 2, p. 260-7 8 p.

Encyclopedia of the mouse genome V. Mouse chromosome 2

Siracusa, L. D., Morgan, J. L., Abbott, C. M. & Peters, J. 1996 In : Mammalian Genome. 6 Spec No, p. S51-63

Genetic and physical mapping of the mouse Ulnaless locus

Peichel, C. L., Abbott, C. M. & Vogt, T. F. 1996 In : Genetics. 144, 4, p. 1757-67 11 p.

Isolation and mapping of novel mouse brain cDNA clones containing trinucleotide repeats, and demonstration of novel alleles in recombinant inbred strains

Chambers, D. M. & Abbott, C. M. 1996 In : Genome Research. 6, 8, p. 715-23 9 p.

The isolation and mapping of PCR markers specific to mouse Chromosome 2

Malas, S., Pilz, A., Lalley, P. A., Pate, L., Stephenson, D. A. & Abbott, C. 1996 In : Mammalian Genome. 7, 2, p. 145-8 4 p.

Comparative mapping of 50 human chromosome 9 loci in the laboratory mouse

Pilz, A., Woodward, K., Povey, S. & Abbott, C. 1995 In : Genomics. 25, 1, p. 139-49 11 p.

The mouse homologue of the human tuberous sclerosis 2 (TSC2) gene maps to chromosome 17, but does not fall within the tw18 or th20 deletions

Pilz, A., Glenister, P., Povey, S., Lyon, M. & Abbott, C. 1995 In : Genomics. 26, 2, p. 420-1 2 p.

Thirteen genes (Cebpb, E2f1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1 and Rcad) that probably lie in the distal imprinting region of mouse chromosome 2 are not monoallelically expressed

Williamson, C. M., Dutton, E. R., Abbott, C. M., Beechey, C. V., Ball, S. T. & Peters, J. 1995 In : Genetics Research. 65, 2, p. 83-93 11 p.

Analysis of CAG trinucleotide repeats from mouse cDNA sequences

Abbott, C. & Chambers, D. 1994 In : Annals of human genetics. 58, Pt 2, p. 87-94 8 p.

Genetic linkage analysis of the Ak1, Col5a1, Epb7.2, Fpgs, Grp78, Pbx3, and Notch1 genes in the region of mouse chromosome 2 homologous to human chromosome 9q

Pilz, A., Prohaska, R., Peters, J. & Abbott, C. 1994 In : Genomics. 21, 1, p. 104-9 6 p.

Linkage mapping around the ragged (Ra) and wasted (wst) loci on distal mouse chromosome 2

Abbott, C., Malas, S., Pilz, A., Pate, L., Ali, R. & Peters, J. 1994 In : Genomics. 20, 1, p. 94-8 5 p.

The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20

Malas, S., Peters, J. & Abbott, C. 1994 In : Mammalian Genome. 5, 9, p. 577-9 3 p.

Dinucleotide repeats in the mouse Hox-4.4 and Hox-4.5 genes on chromosome 2, and their analysis in the BXD and BXH recombinant inbred strains

Pilz, A. J. & Abbott, C. M. 1993 In : Mammalian Genome. 4, 2, p. 129-30 2 p.

Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 2

Siracusa, L. D. & Abbott, C. M. 1993 In : Mammalian Genome. 4 Spec No, p. S31-46

Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 4

Abbott, C. M., Blank, R., Eppig, J. T., Fiedorek, F. T., Frankel, W., Friedman, J. M., Huppi, K. E., Jackson, I., Steel, K. & Mock, B. A. 1993 In : Mammalian Genome. 4 Spec No, p. S58-71

Genomic analysis of transgenic animals by the polymerase chain reaction

Abbott, C. 1993 In : Methods in Molecular Biology. 18, p. 317-21 5 p.

Linkage mapping of the Aldo-2, Pax-5, Ambp, and D4h9S3E loci on mouse chromosome 4 in the region of homology with human chromosome 9

Pilz, A., Fountain, J., Peters, J. & Abbott, C. 1993 In : Genomics. 18, 3, p. 705-8 4 p.

Mapping of the human homologs of the murine paired-box-containing genes

Pilz, A. J., Povey, S., Gruss, P. & Abbott, C. M. 1993 In : Mammalian Genome. 4, 2, p. 78-82 5 p.

Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: A study of 17 cases

Abbott, C. M., Lovegrove, J. U., Whitehouse, D. B., Hopkinson, D. A. & Povey, S. Apr 1992 In : Prenatal Diagnosis. 12, 4, p. 235-240 6 p.

Comparative mapping of mouse chromosome 2 and human chromosome 9q: the genes for gelsolin and dopamine beta-hydroxylase map to mouse chromosome 2

Pilz, A., Moseley, H., Peters, J. & Abbott, C. 1992 In : Genomics. 12, 4, p. 715-9 5 p.

Comparative mapping of mouse chromosome 4 and human chromosome 9: Lv, Orm, and Hxb are closely linked on mouse chromosome 4

Pilz, A., Moseley, H., Peters, J. & Abbott, C. 1992 In : Mammalian Genome. 3, 5, p. 247-9 3 p.

Mapping of the structural gene for S-adenosyl homocysteine hydrolase to mouse chromosome 2, and related sequences to chromosomes 8 and X

Pilz, A., Le Tissier, P., Moseley, H., Peters, J. & Abbott, C. 1992 In : Mammalian Genome. 3, 11, p. 633-6 4 p.

Mouse chromosome 4

Abbott, C. M., Blank, R., Eppig, J. T., Friedman, J. M., Huppi, K. E., Jackson, I., Mock, B. A., Stoye, J. & Wiseman, R. 1992 In : Mammalian Genome. 3 Spec No, p. S55-64

Mouse models of human single gene disorders. I: Nontransgenic mice

Darling, S. M. & Abbott, C. M. 1992 In : BioEssays. 14, 6, p. 359-66 8 p.

Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992

Povey, S., Smith, M., Haines, J., Kwiatkowski, D., Fountain, J., Bale, A., Abbott, C., Jackson, I., Lawrie, M. & Hultén, M. 1992 In : Annals of human genetics. 56, Pt 3, p. 167-82 16 p.

Structure and chromosomal localization of the human 2',3'-cyclic nucleotide 3'-phosphodiesterase gene

Douglas, A., Fox, M. F., Abbott, C. M., Hinks, L. J., Sharpe, G., Povey, S. & Thompson, R. J. 1992 In : Annals of human genetics. 56, Pt 3, p. 243-54 12 p.

The gene for proliferating cell nuclear antigen (Pcna) maps to mouse chromosome 2

Abbott, C., Pilz, A., Moseley, H. & Peter, J. 1992 In : Mammalian Genome. 3, 5, p. 286-9 4 p.

The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2

Pilz, A. J., Willer, E., Povey, S. & Abbott, C. M. 1992 In : Annals of human genetics. 56, Pt 4, p. 289-93 5 p.

Adenosine deaminase, Ada, is in mouse chromosome 2H3, and is not allelic with wasted, wst

Abbott, C. M., Evans, E. P., Burtenshaw, M., Ball, S. T., Skidmore, C. J., Jones, J. & Peters, J. 1991 In : Biochemical genetics. 29, 11-12, p. 537-44 8 p.

Development of human chromosome-specific PCR primers for characterization of somatic cell hybrids

Abbott, C. & Povey, S. 1991 In : Genomics. 9, 1, p. 73-7 5 p.

Disruption of the LF-A1 and LF-B1 binding sites in the human alpha-1-antitrypsin gene has a differential effect during development in transgenic mice

Tripodi, M., Abbott, C., Vivian, N., Cortese, R. & Lovell-Badge, R. 1991 In : EMBO Journal. 10, 11, p. 3177-82 6 p.

The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4

Abbott, C., Jackson, I. J., Carritt, B. & Povey, S. 1991 In : Genomics. 11, 2, p. 471-3 3 p.

The use of irradiation and fusion gene transfer (IFGT) hybrids to isolate DNA clones from human chromosome region 9q33-q34

Florian, F., Hornigold, N., Griffin, D. K., Delhanty, J. D., Sefton, L., Abbott, C., Jones, C., Goodfellow, P. N. & Wolfe, J. 1991 In : Somatic Cell and Molecular Genetics. 17, 5, p. 445-53 9 p.

Generation of small mutation in large genomic fragments by homologous recombination: description of the technique and examples of its use

Tripodi, M., Perfumo, S., Ali, R., Amicone, L., Abbott, C. & Cortese, R. 1990 In : Nucleic Acids Research. 18, 21, p. 6247-51 5 p.

Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction

Abbott, C., Piaggio, G., Ammendola, R., Solomon, E., Povey, S., Gounari, F., De Simone, V. & Cortese, R. 1990 In : Genomics. 8, 1, p. 165-7 3 p.

The assignment of the genes coding for human complement components C6 and C7 to chromosome 5

Jeremiah, S. J., Abbott, C. M., Murad, Z., Povey, S., Thomas, H. J., Solomon, E., DiScipio, R. G. & Fey, G. H. 1990 In : Annals of human genetics. 54, Pt 2, p. 141-7 7 p.

Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus

Whitehouse, D. B., Abbott, C. M., Lovegrove, J. U., McIntosh, I., McMahon, C. J., Mieli-Vergani, G., Mowat, A. P. & Hopkinson, D. A. 1989 In : American Journal of Medical Genetics Part A. 26, 12, p. 744-9 6 p.

The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction

Abbott, C., West, L., Povey, S., Jeremiah, S., Murad, Z., DiScipio, R. & Fey, G. 1989 In : Genomics. 4, 4, p. 606-9 4 p.

PCR as a rapid screening method for transgenic mice

Abbott, C., Povey, S., Vivian, N. & Lovell-Badge, R. 1988 In : Trends in Genetics. 4, 11, p. 325

Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction

Abbott, C. M., McMahon, C. J., Whitehouse, D. B. & Povey, S. 1988 In : The Lancet. 1, 8588, p. 763-4 2 p.

Alpha 1-antitrypsin-related gene (ATR) for prenatal diagnosis

Abbott, C. M., McMahon, C. J., Kelsey, G. D., Parkar, M., Whitehouse, D. B., Corney, G., Povey, S., Hopkinson, D. A., Mieli-Vergani, G. & Mowat, A. 1987 In : The Lancet. 1, 8547, p. 1425-6 2 p.

Deficiency of adenosine deaminase in the wasted mouse

Abbott, C. M., Skidmore, C. J., Searle, A. G. & Peters, J. 1986 In : Proceedings of the National Academy of Sciences. 83, 3, p. 693-5 3 p.



Abbott, C.


£325,894, UK-based charities

Generation and validation of a mouse model of genetic early onset epilepsy and in cage monitoring of seizure activity

Abbott, C.


£115,648, UK-based charities

Mouse model MND- therapeutic strategies

Abbott, C.


£58,437, UK-based charities

The role of eEf1A2 in ovarian and breast cancer

Abbott, C.


£155,913, UK-based charities

Translation elongation factors in health and disease.

Abbott, C.


£361,082, UK-based charities

Two-faced Janus: mammalian translation elongation factor 1A and its isoforms

Abbott, C.


£121,080, UK-based charities



Catherine Abbott (Member), 2010