Chercheurs

Sciences de la Vie / JEFFREYS, ALEC J.

ajj

Position

Department of Genetics
University of Leicester
Leicester, United Kingdom.

Thèmes de recherche

Analysis of human genome instability and recombination processes by single gamete and transgenic approaches. Investigation of the effects of ionising radiation on germline mutation.

Current projects being actively pursued in the laboratory include genetic variability and mutation in human and animal DNA.

In 1975, Pr Jeffreys developed what is now a widely used technique for analysing individual genes, and also made the unexpected discovery that genes are split by non-coding sections of DNA (introns).

In the mid-1980s, he discovered sequences within strands of DNA that differ from one individual to the next and form a personal code as unique as our fingerprints. He was also the scientist who invented the technique for identifying those sequences. Since his discovery, it has been possible to identify every individual from any cell in his or her body, the only exception being identical twins, who share the same DNA pattern.

Prix et récompenses

Dr H.P. Heineken Prize for Biochemistry and Biophysics 2006 (Royal Netherlands Academy of Arts and Sciences) 'for his discovery of the genetic fingerprint'.

He has also received numerous prizes and awards, including the Australia Prize (1998), the Louis-Jeantet Prize for medicine (2004) and the Albert Lasker Award for Clinical Medical Research (2005).

Publications

Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot. Jeffreys A.J. & Neumann R. Hum. Mol. Genet. 14, 2277-2287 (2005).

Human recombination hot spots hidden within regions of strong marker association. Jeffreys A.J., Neumann R., Panayi M., Myers S. & Donnelly P. Nature Genet. 37, 601-606 (2005).

Localized breakdown in linkage disequilibrium does not always predict sperm crossover hotspots in the human MHC class II region. Kauppi L., Stumpf M.P.H. & Jeffreys A.J. Genomics 86, 13-24 (2005).

Where the crossovers are: Recombination distributions in mammals. Kauppi L., Jeffreys A.J. & Keeney S. Nature Reviews Genetics. 5, 413-424 (2004).

Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Jeffreys A.J. & May C.A. Nature Genetics. 36, 151-156, (2004).

Meiotic recombination hot spots and human DNA diversity. Jeffreys A.J., Holloway J.K., Kauppi L., May C.A., Neumann R., Slingsby M.T. & Webb A.J. Phil. Trans. R. Soc. Lond. B Biol. Sci. 359, 153 (2004).

DNA enrichment by allele-specific hybridization (DEASH): A novel method for haplotyping and for detecting low-frequency base substitutional variants and recombinant DNA molecules. Jeffreys A.J. & May C.A. Genome Research 13, 2316-2324 (2003).

Global haplotype diversity in the human insulin gene region. Stead J.D.H., Hurles M.E. & Jeffreys A.J.. Genome Res., 13, 2101-2111 (2003).

Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion. Berg I., Neumann R., Cederberg H., Rannug U. & Jeffreys A.J. Am. J. Hum. Genet. 72 1436-1447 (2003).

High-resolution sperm typing of meiotic recombination in the mouse MHC Eβ gene. Yauk C.L., Bois P.R..J & Jeffreys A.J. EMBO J. 22 1389-1397 (2003).

Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region. Kauppi L., Sajantila A. & Jeffreys A.J. Hum. Mol. Genet. 12, 33-44 (2003).

Structural analysis of insulin minisatellite alleles reveals unusually large differences in diversity between Africans and non-Africans. Stead J.D.S. & Jeffreys A.J. Am. J. Hum. Genet. 71, 1273-1284 (2002).

Minisatellites show rare and simple intra-allelic instability in the mouse germline. Bois P.R.J., Grant G.R. & Jeffreys A.J. Genomics 80, 2-4 (2002).

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. May, C.A., Shone, A.C., Kalaydjieva, L., Sajantila, A. & Jeffreys, A.J. Nature Genetics 31, 272-275 (2002).

Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot. Jeffreys, A.J. & Neumann, R. Nature Genetics, 31, 267-271 (2002).

Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity. Mizukoshi T., Tamaki K., Azumi J., Matsumoto H., Immi K. & Jeffreys A.J. J. Hum. Genet. 47, 232-238 (2002).

Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Jeffreys, A.J., Kauppi, L., & Neumann, R. Nature Genetics 29, 217-222 (2001).

Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes. Stead, J.D.H., Buard, J., Todd, J.A. & Jeffreys, A.J. Hum. Mol. Genet. 9, 2929-2935 (2000).

High-resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot. Jeffreys, A.J., Richie, A. & Neumann, R. Hum. Mol. Genet. 9, 724-733 (2000).

Minisatellite mutation frequency in human sperm following radiotherapy. May, C.A., Tamaki, K., Neumann, R., Wilson, G., Zagars, G., Pollack, A., Dubrova, Y.E., Jeffreys, A.J. & Meistrich M.L. Mutation Research 453, 67-75 (2000).

Allele diversity and germline mutation at the insulin minisatellite. Stead, J.D.H. & Jeffreys, A.J. Hum. Mol. Genet. 9, 713-723 (2000).

Human minisatellites, repeat DNA instability and meiotic recombination. Jeffreys, A.J., Barber, R., Bois, P., Buard, J., Dubrova, Y.E., Grant, G., Hollies, C.R., May, C.A., Neumann, R., Panayi, M., Ritchie, A.E., Shone, A.C., Signer, E., Stead, J.D.H. & Tamaki, K. Electrophoresis 20, 1665-1675 (1999).

Extremely complex repeat shuffling during germline mutation at human minisatellite B6.7. Tamaki, K., May, C.A., Dubrova, Y.E. & Jeffreys, A.J. Hum. Mol. Genet. 8, 879-888 (1999).

Comparative sequence analysis of human minisatellites showing meiotic repeat instability. Murray, J., Buard, J., Neil, D.L., Yeramian, E., Tamaki, K., Hollies, C. & Jeffreys, A.J. Genome Res. 9, 130-136 (1999).

High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot. Jeffreys, A.J., Murray, J. and Neumann, R. Mol. Cell, 2, 267-273 (1998).

DNA fingerprinting Dolly. Signer, E.N., Dubrova, Y.E., Jeffreys, A.J., Wilde, C., Finch, L.M., Wells, M. & Peaker, M. Nature 394, 329-330 (1998).

Isolation and characterization of mouse minisatellites. Bois, P., Stead, J.D.H., Bakshi, S., Williamson, J., Neumann, R., Moghadaszadeh, B. & Jeffreys, A.J. Genomics, 50, 317-330 (1998).

Influences of array size and homogeneity on minisatellite mutation. Buard, J., Bourdet, A., Yardley, J., Dubrova, Y. & Jeffreys, A.J. EMBO J., 17, 3495-3502 (1998).

Stage specificity, dose response, and doubling dose for mouse minisatellite germ-line mutation induced by acute radiation. Dubrova, Y.E., Plumb, M., Brown, J., Fennelly, J., Bois, P., Goodhead, D. & Jeffreys, A.J. Proc. Natl. Acad. Sci. U S A., 95, 6251-6255 (1998).

Repeat instability at human minisatellites arising from meiotic recombination. Jeffreys, A.J., Neil, D.L. & Neumann, R. EMBO J., 17, 4147-4157 (1998).

A novel unstable mouse VNTR family expanded from SINE B1 elements. Bois, P., Williamson, J., Brown, J., Dubrova, Y.E. & Jeffreys, A.J. Genomics, 49, 122-128 (1998).

Further evidence for elevated human minisatellite mutation rate in Belarus eight years after the Chernobyl accident. Dubrova, Y.E., Nesterov, V.N., Krouchinsky, N.G., Ostapenko, V.A., Vergnaud, G., Giraudeau, F., Buard, J. & Jeffreys, A.J. Mutat. Res. 381, 267-278 (1997).

Human minisatellite MS32 (D1S8) displays somatic but not germline instability in transgenic mice. Bois, P., Collick, A., Brown, J. & Jeffreys, A.J. Hum. Mol. Genet., 6, 1565-1571 (1997).

Somatic mutation processes at a human minisatellite. Jeffreys, A.J. & Neumann, R. Hum. Mol. Genet., 6, 129-136 (1997).

Minisatellite diversity supports a recent African origin for modern humans. Armour, J.A., Anttinen, T., May, C.A., Vega, E.E., Sajantila, A., Kidd, J.R., Kidd, K.K., Bertranpetit, J., Paabo, S. & Jeffreys, A.J. Nat. Genet., 13, 154-160 (1996).

Human minisatellite mutation rate after the Chernobyl accident. Dubrova, Y.E., Nesterov, V.N., Krouchinsky, N.G., Ostapenko, V.A., Neumann, R., Neil, D.L. & Jeffreys, A.J. Nature, 380, 683-686 (1996).

Instability of long inverted repeats within mouse transgenes. Collick, A., Drew, J., Penberth, J., Bois, P., Luckett, J., Scaerou, F., Jeffreys, A. & Reik, W. EMBO J, 15, 1163-1171 (1996).

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism. Monckton, D.G., Neumann, R., Guram, T., Fretwell, N., Tamaki, K., MacLeod, A. & Jeffreys, A.J. Nat. Genet., 8, 162-170 (1994).

Complex gene conversion events in germline mutation at human minisatellites. Jeffreys, A.J., Tamaki, K., MacLeod, A., Monckton, D.G., Neil, D.L. & Armour, J.A. Nat. Genet., 6, 136-145 (1994).

A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development. Gibbs, M., Collick, A., Kelly, R.G. & Jeffreys, A.J. Genomics, 17, 121-128 (1993).

Identification of the skeletal remains of Josef Mengele by DNA analysis. Jeffreys, A.J., Allen, M.J., Hagelberg, E. & Sonnberg, A. Forensic Sci. Int., 56, 65-76 (1992).

Minisatellite repeat coding as a digital approach to DNA typing.Jeffreys, A.J., MacLeod, A., Tamaki, K., Neil, D.L. & Monckton, D.G. Nature, 354, 204-209 (1991).

Hypervariable 'minisatellite' regions in human DNA. Jeffreys, A.J., Wilson, V. & Thein, S.L. Nature, 314, 67-73 (1985).