Professor Mark A. Jobling
Professor of Genetics
Professor Jobling has an interest in patterns of DNA diversity in populations, how this arises, and what it tells us about the past. This is mostly in human populations, but also in other animals including gorillas and domestic cats.
His research finds practical applications in forensics and conservation. Collaborating with historians, archaeologists and linguists, as well as with forensic practitioners and policy-makers in the UK and overseas.
Growing the Y-chromosome tree with the help of citizen science
With the help of 'citizen scientists' who have had their own Y chromosomes analysed, we are expanding the Y chromosome tree and learning more about patrilineal histories.
Sex, genomes, history: molecular, evolutionary and cultural effects on human genetic diversity (Wellcome Trust Senior Research Fellowship)
This project built upon progress made in the previous two Fellowship terms by addressing two major questions:
- How has residence on the sex chromosomes affected the long- and short-term evolution of genic and non-genic sequences in primates?
- How do the molecular evolutionary forces acting on these sequences interact with general and sex-specific population processes, and how can knowledge of molecular and population-level influences illuminate the histories of human populations themselves?
- To do this, we exploited the recent quantum leap in DNA sequencing and typing technology to provide a relatively unbiased and large-scale picture of diversity. We used sequence-capture and Illumina sequencing to generate high-coverage sex-chromosomal and autosomal data on 440 humans and 20 great ape males.
So far, we have published a Y-chromosome phylogeny and population studies of European Y and mtDNA diversity; we have also published our Y and mtDNA data on great apes. We are also working to analyse multi locus data at the population level in Europe and integrate this with extant ancient DNA data. Other Y-chromosomal data from our sequencing experiments are being analysed to understand the details of gene conversion processes in palindromic sequences.
The Impact of Diasporas on the making of Britain
This multidisciplinary collaboration drew on the world-class expertise of academics based in the University of Leicester in the Department of Genetics, the School of Archaeology and Ancient History, the School of Historical Studies and the School of English. We aimed to reappraise key questions and evidence concerning the population history of Britain and the roots of the identities of the historical nations of the island, focusing especially on the methodological interfaces between academic disciplines. Funding came from the Leverhulme Trust as a programme grant (PI: Prof Joanna Story, School of Historical Studies). We are currently working on papers that describe Y and mtDNA data from the People of the British Isles project (PI: Walter Bodmer, Oxford), and also on Approximate Bayesian Computation (ABC) approaches to understanding Viking migrations. An ongoing project is examining the population of Normandy within the framework of Viking migration.
Selected primary publications
ORCID iD: 0000-0002-8061-1308
Muinde, J.M., Chandra Bhanu, D.R., Neumann, R., Oduor, R.O., Kanja, W., Kimani, J.K., Mutugi, M.W., Smith, L., Jobling, M.A. and Wetton, J.H. (2021) Geographical and linguistic structure in the people of Kenya demonstrated using 21 autosomal STRs. Forensic Sci. Int. Genet., 102535.
Hallast, P., Kibena, L., Punab, M., Arciero, E., Rootsi, S., Grigorova,M., Flores, R., JOBLING, M.A., Poolamets, O., Korrovits, P., Rull, K., Xue, Y., Tyler-Smith, C. and Laan, M. (2021) A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. eLife, 10, e65420.
Lall, G.M., Larmuseau, M.H.D., Wetton, J.H., Batini, C., Hallast, P., Huszar, T.I., Zadik, D., Aase, S., Baker, T., Balaresque, P., Bodmer, W., Børglum, A.D., de Knijff, P., Dunn, H., Harding, S.E., Løvvik, H., Dupuy, B.M., Pamjav, H. Tillmar, A.O., Tomaszewski, M., Tyler-Smith, C. Verdugo, M.P., Winney, B., Vohra, P., Story, J., King, T.E., and JOBLING, M.A. (2020) Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain. Eur. J. Hum. Genet., 29: 512-523.
Huszar, T.I, Wetton, J.H. and JOBLING, M.A. (2019) Mitigating the effects of reference sequence bias in single-multiplex massively parallel sequencing of the mitochondrial DNA control region. Forensic Sci. Internat. Genet., 40, 9-17.
Khubrani, Y., Hallast, P., JOBLING, M.A. and Wetton, J.H. (2019) Massively parallel sequencing of autosomal STRs and identity-informative SNPs highlights consanguinity in Saudi Arabia. Forensic Sci. Int. Genet., 43, 102164.
Poriswanish, N., Neumann, R., Wetton, J.H., Wagstaff, J. Larmuseau, M.H.D., JOBLING, M.A. and May, C.A. (2018) Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis. PLoS Genet., 14, e1007680.
Huszar, T.I., JOBLING, M.A. and Wetton, J.H. (2018) A phylogenetic framework facilitates Y-STR variant discovery and classification via massively parallel sequencing. Forensic Sci. Int. Genet., 35, 97-106 doi.org/10.1016/j.fsigen.2018.03.012.
Khubrani, Y.M., Wetton, J.H. and JOBLING, M.A. (2017) Extensive geographical and social structure in the paternal lineages of Saudi Arabia revealed by analysis of 27 Y-STRs. Forensic Sci. Int. Genet., 3, 98–105.
Batini, C., Hallast, P., Vågene, Å., Zadik, D., Eriksen, H.A., Sajantila, A., Wetton, J.H. and JOBLING, M.A. (2017) Population resequencing of European mitochondrial genomes highlights sex-bias in Bronze Age demographic expansions. Sci. Reports, 7, 12086. (PubMed)
Maisano Delser, P., Neumann, R., Ballereau, S., Hallast, P., Batini, C., Zadik, D. and JOBLING, M.A. (2017) Signatures of human European Paleolithic expansion shown by resequencing of non-recombining X-chromosome segments. Eur. J. Hum. Genet., 25, 485-492. (PubMed)
Hallast, P., Maisano Delser, P., Batini, C., Zadik, D., Rocchi, M., Schempp, W., Tyler-Smith, C. and JOBLING, M.A. (2016) Great-ape Y-chromosome and mitochondrial DNA phylogenies reflect sub-species structure and patterns of mating and dispersal. Genome Res., 26, 427-439. doi:10.1101/gr.198754.115. (PubMed).
Batini, C., Hallast, P., Zadik, D., Maisano Delser, P., Benazzo, A., Ghirotto, S., Arroyo-Pardo, E., Cavalleri, G.L., de Knijff, P., Myhre Dupuy, B., Eriksen, H.A, King, T.E., López de Munain, A., López-Parra, A.M., Loutradis, A., Milasin, J., Novelletto, A., Pamjav, H., Sajantila, A., Tolun, A., Winney, B., and JOBLING, M.A. (2015) Large-scale recent expansion of European patrilineages shown by population resequencing. Nature Commun., 6, 7152. doi:10.1038/ncomms8152. (PubMed)
Balaresque, P., Poulet, N., Cussat-Blanc, S., Gerard, P., Quintana-Murci, L., Heyer, E., and JOBLING, M.A. (2015) Y-chromosome descent clusters and male differential reproductive success: Young lineage expansions dominate Asian pastoral nomadic populations. Eur. J. Hum. Genet., 23, 1413-1422. doi: 10.1038/ejhg.2014.285. (PubMed)
Hallast, P., Batini, C., Zadik, D., Maisano Delser, P., Wetton, J.H., Arroyo-Pardo, E., Cavalleri, G.L., de Knijff, P., Destro Bisol, G., Myhre Dupuy, B., Eriksen, H.A, Jorde, L.B., King, T.E., Larmuseau, M.H., López de Munain, A., López-Parra, A.M., Loutradis, A., Milasin, J., Novelletto, A., Pamjav, H., Sajantila, A., Schempp, W., Sears, M., Tolun, A., Tyler-Smith, Van Geystelen, A., Watkins, S., Winney, B., and JOBLING, M.A. (2015) The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades. Mol. Biol. Evol., 32, 661-673. doi: 10.1093/molbev/msu327 (PubMed). You can download the vcf for this dataset.
Balaresque, P., Bowden, G.R., Adams, S.M., Leung, H.-Y., King, T.E., Rosser, Z.H., Goodwin, J., Moisan, J.-P., Richard, C., Millward, A., Demaine, A.G., Barbujani, G., Previderè, C., Wilson, I.J., Tyler-Smith, C. and JOBLING, M.A. (2010) A predominantly Neolithic origin for European paternal lineages. PLoS Biol., 8, e1000285. doi:10.1371/journal.pbio.1000285. (PubMed) (LRA)
King, T.E. and JOBLING, M.A. (2009) Founders, drift and infidelity: the relationship between Y chromosome diversity and patrilineal surnames. Mol. Biol. Evol., 26, 1093-1102. (PubMed) (LRA)
Books and selected review articles
JOBLING, M.A. (2022) Forensic genetics through the lens of Lewontin: population structure, ancestry and race. Phil. Trans. R. Soc. B 377: 20200422. https://doi.org/10.1098/rstb.2020.0422
JOBLING, M.A. and Millard, A. (2020) Isotopic and genetic evidence for migration in Medieval England, in: Ormrod, W.M., Tyler, E.M., Story, J. (eds.): Migrants in Medieval England, c. 500–1500; Proceedings of the British Academy, 219. Oxford: Oxford University Press, pp. 19-61.
JOBLING, M.A., Hollox, E.J., Kivisild, T. and Tyler-Smith, C. (2018) Chapter 14: Human Evolution, pp. 461-490, in Strachan, T. and Read, A.P., Human Molecular Genetics, 5th edn., Garland Science, New York/London.
JOBLING, M., Hollox, E., Hurles, M., Kivisild, T. and Tyler-Smith, C. (2014) Human Evolutionary Genetics, 2nd edn., 670pp., Garland Science, New York/London.
Maan, A.A., Eales, J., Akbarov, A., Rowland, J., Xu, X., JOBLING, M.A., Charchar, F.J. and Tomaszewski, M. (2017) The Y chromosome: a blueprint for men’s health? Eur. J. Hum. Genet., 25, 1181-1188 doi:10.1038/ejhg.2017.128.
JOBLING, M.A. and Tyler-Smith, C. (2017) Human Y-chromosome variation in the genome-sequencing era. Nature Rev. Genet., 18, 485–497; doi:10.1038/nrg.2017.36. Read this review (public full-text access to a view-only version).
Batini, C. and JOBLING, M.A. (2017) Detecting past male-mediated expansions using the Y chromosome. Hum. Genet., 136, 547-557. (PubMed)
Hallast, P. and JOBLING, M.A. (2017) The Y chromosomes of the great apes. Hum. Genet., 136, 511-528 (PubMed) Read this review here (public full-text access to a view-only version).
JOBLING, M.A., Rasteiro, R., and Wetton, J.H. (2016) In the blood: the myth and reality of genetic markers of identity. Ethnic Racial Stud., 39, 142-161. doi:10.1080/01419870.2016.1105990.
King, T.E. and JOBLING, M.A. (2009) What’s in a name? - Y chromosomes, surnames, and the genetic genealogy revolution. Trends Genet., 25, 351-360. (PubMed)
We are interested in patterns of human genetic diversity, and how these are influenced by population-level processes including migration, social organisation, language and culture, as well as fundamental genome-level processes of mutation, copy number variation, gene conversion and recombination. Our work has a translational aspect in forensic genetics and genomics, where we also study animal DNA.
We have focused on the diversity of the non-recombining region of the paternally inherited Y chromosome, including the application of next-generation sequencing to human Y diversity, and also to understanding the relationships of human and great-ape sex chromosomes.
Our current population studies are on Western Europe and the British Isles in particular, including patrilineal surnames as cultural markers of male co-ancestry. We also have an interest in population structure in Middle Eastern countries. We collaborate with colleagues in History, Archaeology and English in a multidisciplinary approach to understanding the human past.
Recent forensically relevant research has focused on the effects of social and geographical structure on genetic diversity, the application of next-generation sequencing to forensic DNA analysis, and studies of diversity in domestic and wild animal species with relevance to criminal casework and conservation genetics.
PhD projects are offered in these general areas; applicants are encouraged to think of projects that would match their own areas of interest and complement our other activities. Please contact me for further information or to discuss project ideas.
My undergraduate teaching interests span the fields of human, medical, forensic, conservation, and evolutionary genetics.
Get in touch for media enquiries, expert opinion, interviews, images or video.
- BA (Hons), DPhil (Oxon);
- Honorary Professor, Hubei University of Medicine, China