People

Professor Mark A. Jobling

Professor of Genetics

Professor Mark A. Jobling

School/Department: Genetics and Genome Biology, Department of

Telephone: +44 (0)116 252 3427

Email: maj4@le.ac.uk

Web:

PubMed at the US National Library of Medicine

Google Scholar

Profile

I was brought up and educated in Durham, and went to the University of Oxford to study Biochemistry in 1981. I then did a DPhil at the Genetics Laboratory there, where I developed an interest in human Y chromosomes. In 1992 I moved to the Department of Genetics in Leicester to study human Y chromosome diversity, under an MRC Training Fellowship, where I have remained until today, including a series of three Wellcome Trust Senior Fellowships.

I have a strong commitment to engaging the public about genetics and have given many public talks to groups including family history societies, U3A, and schools.

Get in touch if you are interested in a talk from me on:

  • Human or medical genetics
  • Human evolution
  • Forensic DNA analysis
  • Genetic genealogy
  • Ancestry testing
  • Genetics in historical studies

Memberships and editorial boards

  • Senior editor, Annals of Human Genetics
  • Member of the International Society for Forensic Genetics
  • External examiner for Genetics, University of Glasgow

Other responsibilities

  • Deputy Head of Department, Genetics & Genome Biology
  • Co-Director, Alec Jeffreys Forensic Genomics Unit
  • Chair, Wellcome Trust key funder working group
  • Chair, internal advisory board for the UoL Wellcome-funded I-REACCH research culture programme
  • Member, University Research Integrity Working Group
  • REF2021 academic lead, UoA5 (Biological Sciences)

Research

For many years my research has been in human genetic diversity, with a focus on the male-specific region of the Y chromosome. This has led to studies on population history and collaborations with historians and archaeologists, and the examination of the relationship between Y-chromosome haplotypes and patrilineal surnames. The practical application of Y diversity is in forensic genetics, where male-specific DNA profiles can be generated using Y-STRs. We have worked on developing these and on generating large population databases that inform the interpretation of forensic evidence. In turn, this work led to impact case studies in REF2014 and REF2021.

Recent work has shifted from humans to non-humans, both for conservation genetics and forensic analysis. This work includes the application of nanopore sequencing to domestic cats and gorillas, and the development of a rapid, universal, on-site species identification system based on nanopore sequencing of mitochondrial DNA barcodes. You can read a Guardian article featuring my PhD student Emily Patterson’s application of this system to identify bushmeat seized at Brussels Zaventem Airport here.

 

Publications

Selected primary publications

ORCID iD: 0000-0002-8061-1308

Patterson, E.C., Matharu Lall, G., Neumann, R., Ottolini, B., Batini, C., Sacchini, F., Foster,A.P., Wetton, J.H. and JOBLING, M.A. (2023) Mitogenome sequences of domestic cats demonstrate lineage expansions and dynamic mutation processes in a mitochondrial minisatellite. BMC Genomics 24, 690.

Patterson, E.C., Matharu Lall, G., Neumann, R., Ottolini, B., Sacchini, F., Foster,A.P., JOBLING, M.A. and Wetton, J.H. (2023) Defining cat mitogenome variation and accounting for numts via multiplex amplification and Nanopore sequencing. Forensic Sci. Int. Genet. 67. 102944.

Huszar, T.I., Bodmer, W.F., Hutnik, K., Wetton, J.H. and JOBLING, M.A. (2022) Sequencing of autosomal, mitochondrial and Y-chromosomal forensic markers in the People of the British Isles cohort detects population structure dominated by patrilineages. Forensic Sci. Int. Genet., 59, 102725.

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. 

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

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. We are currently working on the third edition!

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)

Supervision

I am not currently taking on new PhD students.

Teaching

My undergraduate teaching interests span the fields of human, medical, forensic, conservation, and evolutionary genetics, and I teach across all three years of the Biological Sciences programme.

Qualifications

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