Prof Mark A. Jobling

Wellcome Trust Senior Research Fellow in Basic Biomedical Science

Professor of Genetics

Contact Details

Building: Adrian Building

Room: G2-3 (lab) / G5 (office)

Telephone (lab): internal 3377 external +44 (0)116 2523377

Telephone (office): internal 3427 external +44 (0)116 2523427

Fax: +44 (0)116 2523378

Email: maj4@le.ac.uk

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Research Interests

The Y chromosome and the histories and structures of human populations, in particular those of Western Europe. Haploid mutation processes, including ectopic recombination and gene conversion. Natural selection on the Y; Y-chromosomal genes and male infertility. Genealogical and forensic applications of Y markers. XY-homologous genes and the evolution of gametologous sequences. Characteristics of autosomal and X-chromosomal haplotypes and application to human population studies.

More details of currently funded projects:

• Sex, genomes, history: molecular, evolutionary and cultural effects on human genetic diversity
• What's in a name? Applying patrilineal surnames to forensics, population history and genetic epidemiology. Please note that recruitment for our Viking descent project is now CLOSED due to an overwhelming response!

Information about completed projects:

• Pattern and process in human genetic diversity: from genomes to populations
• The Y chromosome as a marker for the history and structure of human populations
• Infertility and sex-reversal: direct molecular analysis of sex-chromosomal deletions and translocations in sperm
• Language and genes of the Greater Himalayan region
• For past volunteers: information on our 40-surnames project is now available at the following link: Surnames and genetic structure: a molecular analysis using Y-chromosomal DNA polymorphisms

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Current group members

Ms Georgina Bowden: Ph.D. student
Dr Turi King: Post-doctoral research associate
Ms Suzanne Lavelle: Ph.D. student
Ms Holly Leung: Ph.D. student
Mr Daniel Zadik: Bioinformatician Post-doctoral research associate

Gone but not forgotten

Dr Patricia Balaresque: Post-doctoral research associate
Dr Stéphane Ballereau: Post-doctoral research associate
Zoë Rosser: Ph.D. student; Post-doctoral research associate
Emma Parkin: Post-doctoral research associate
Morag Shanks: Ph.D. student
Sue Adams: Post-doctoral research associate
Andy Lee: Research technician
Elena Bosch: Post-doctoral research associate
Matt Hurles: Ph.D. student
Ghada Omran: Ph.D. student (co-supervised)
Paul Taylor: Post-graduate research assistant
Nourdine Bouzekri: Ph.D. student
Vicky Samara: M.Sc. student
Neale Fretwell: Ph.D. student

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Funding

Research in our group is funded by the Wellcome Trust, and by a Departmental studentship.

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Selected Publications

Follow the links to PubMed for abstracts.

Primary papers

Population studies

• Zerjal, T. et al. (1997) Am. J. Hum. Genet. 60, 1174-1183. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis.
• Hurles, M.E. et al. (1998) Am. J. Hum. Genet. 63, 1793-1806. European Y-chromosomal lineages in Polynesia: a contrast to the population structure revealed by mtDNA.
• Hurles, M.E. et al. (1999) Am. J. Hum. Genet. 65, 1437-1448. Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.
• Hill, E.W. et al. (2000) Nature 404, 351-352. Y-chromosome variation and Irish origins.
• Hammer, M.F. et al. (2000) Proc. Natl. Acad. Sci. USA 97, 6769-6774. Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes.
• Rosser, Z.H. et al. (2000) Am. J. Hum. Genet. 67, 1526-1543. Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.
• Kalaydjieva, L. et al. (2001) Eur. J. Hum. Genet. 9, 97-104. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
• Hurles, M.E. et al. (2002) Genetics 160, 289-303. Y chromosomal evidence for the origins of Oceanic-speaking peoples.
• Bosch, E. et al. (2003) Hum. Genet. 112, 353-363. High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis.
• Hurles, M.E. et al. (2003) Am. J. Hum. Genet. 72, 1282-1287. Native American Y chromosomes in Polynesia: the genetic impact of the Polynesian slave trade.
• Hurles, M.E. et al. (2005) Am. J. Hum. Genet. 76, 894-901. The dual origins of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages.
• Parkin, E.J. et al. (2006) Forensic Sci. Int. 161, 1-7. 26-locus Y-STR typing in a Bhutanese population sample.
• Parkin, E.J. et al. (2007) Forensic Sci. Int. 166, 176-181. Diversity of 26-locus Y-STR haplotypes in a Nepalese population sample: isolation and drift in the Himalayas.
• Rosa, A. et al. (2007) BMC Evol. Biol. 27, 124. Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective.
• Ségurel, L. et al. (2008) PLoS Genet. 4, e1000200. Sex-specific genetic structure and social organization in Central Asia: insights from a multi-locus study.
• Zalloua, P.A. et al. (2008) Am. J. Hum. Genet. 83, 633-642. Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean.
• Adams, S.M. et al. (2008) Am. J. Hum. Genet. 83, 725-736. The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews and Muslims in the Iberian Peninsula.

  Surnames and genealogical studies

• Foster, E.A. et al. (1998) Nature 396, 27-28. Jefferson fathered slave's last child.
• King, T.E. et al. (2006) Curr. Biol. 16, 384-388. Genetic signatures of coancestry within surnames. You can download the final pre-publication version of the article here, and obtain the published pdf from the Current Biology website.
• King, T.E. et al. (2007) Eur. J. Hum. Genet. 15, 288-293. Africans in Yorkshire? - the deepest-rooting clade of the Y phylogeny within an English genealogy. Article available as Open Access from journal website.
• King, T.E. et al. (2007) Am. J. Phys. Anthropol. 132, 584-589. Thomas Jefferson's Y chromosome belongs to a rare European lineage.
• Bowden, G.R. et al. (2008) Mol. Biol. Evol. 25, 301-309. Excavating past population structures by surname-based sampling: the genetic legacy of the Vikings in northwest England. Article available as Open Access.
• King, T.E. and Jobling, M.A. (2009) Mol. Biol. Evol. 26, 1093-1102. Founders, drift and infidelity: the relationship between Y chromosome diversity and patrilineal surnames. Article available as Open Access.

  Male infertility and other phenotypes; natural selection on the Y

• Ma, K. et al. (1993) Cell 75, 1287-1295. A Y-chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis.
• Jobling, M.A. et al. (1998) Curr. Biol. 8, 1391-1394. A selective difference between human Y-chromosomal DNA haplotypes.
• Quintana-Murci, L. et al. (2001) Hum. Genet. 108, 55-58. The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility.
• Krausz, C. et al. (2001) Hum. Mol. Genet. 10, 1873-1877. Identification of a Y chromosome haplogroup associated with reduced sperm counts.
• Bosch, E. and Jobling, M.A. (2003) Hum. Mol. Genet. 12, 341-347. Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility.
• Lee, A.C. et al. (2004) Eur. J. Hum. Genet. 12, 1077-1079. Molecular evidence for absence of Y-linkage of the Hairy Ears trait.
• Moran, C.N. et al. (2004) Hum. Genet. 115, 492-497. Y chromosome haplogroups of elite Ethiopian endurance runners.
• King, T.E. et al. (2005) J. Med. Genet. 42, 366-368. Inadvertent diagnosis of male infertility through genealogical DNA testing. Article available as Open Access from journal website.

  DNA dynamics

• Bouzekri, N. et al. (1998) Hum. Mol. Genet. 7, 655-659. Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization.
• Jobling, M.A. et al. (1999) Hum. Mol. Genet. 8, 2117-2120. Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1.
• Blanco, P. et al. (2000) J. Med. Genet. 37, 752-758. Divergent outcomes of intra-chromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism.
• Bosch, E. et al. (2004) Genome Res. 14, 835-844. Dynamics of a human interparalog gene conversion hotspot.
• Adams, S.M. et al. (2006) Forensic Sci. Int. 159, 14-20. The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion.
• Shanks, M.E. et al. (2008) Mutat. Res. 648, 46-53. Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.
• Rosser, Z.H. et al. (2009) Am. J. Hum. Genet. 85, 130-134. Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot.

  Y-chromosomal variation

• Tyler-Smith, C. et al. (1993) Nature Genet. 5, 368-375. Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes.
• Jobling, M.A. (1994) Hum. Mol. Genet. 3, 107-114. A survey of long-range DNA polymorphisms on the human Y chromosome.
• Jobling, M.A. et al. (1996) Hum. Mol. Genet. 5, 1767-1775. Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males.
• Jobling, M.A. et al. (1998) Hum. Mol. Genet. 7, 643-653. Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1).
• The Y Chromosome Consortium (2002) Genome Res. 12, 339-348. A nomenclature system for the tree of human Y-chromosomal binary haplogroups.
• Bosch, E. et al. (2002) Forensic Sci. Int. 125, 42-51. High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions.
• Kayser, M. et al. (2004) Am. J. Hum. Genet. 74, 1183-1197. A comprehensive survey of human Y-chromosomal microsatellites.
• Jobling, M.A. et al. (2007) Hum. Mol. Genet. 16, 307-316. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Article available as Open Access from journal website.
• Balaresque, P. et al. (2008) Hum. Mutation, 29, 1171-1180. Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.
• Balaresque, P. et al. (2009) Int. J. Legal. Med., 123, 15-23. Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications. Article available as Open Access from journal website.

  Review articles

• Jobling, M.A. and Tyler-Smith, C. (1995) Trends Genet. 11, 449-456. Fathers and sons: the Y chromosome and human evolution.
• Jobling, M.A. et al. (1997) Int. J. Legal Med. 110, 118-124. The Y chromosome in forensic analysis and paternity testing.
• Jobling, M.A. and Tyler-Smith, C. (2000) Trends Genet. 16, 356-362. New uses for new haplotypes: the human Y chromosome, disease and selection.
• Jobling, M.A. (2001) Trends Genet. 17, 353-357. In the name of the father: surnames and genetics. Download this review article.
• Hurles, M.E. and Jobling, M.A. (2001) Mol. Ecol. 10, 1599-1614. Haploid chromosomes in molecular ecology: lessons from the human Y.
• Hurles, M.E. and Jobling, M.A. (2003) Nature Genet. 34, 246-247. A singular chromosome. Download this News & Views article.
• Jobling, M.A. and Tyler-Smith, C. (2003) Nature Rev. Genet. 4, 598-612. The human Y chromosome: an evolutionary marker comes of age. Download this review article.
• Jobling, M.A. and Gill, P. (2004) Nature Rev. Genet. 5, 739-751. Encoded evidence: DNA in forensic analysis. Download this review article.
• Balaresque, P. and Jobling, M.A. (2007) Curr. Biol. 17, R14-R16. Human populations: houses for spouses.
• Balaresque, P. et al. (2007) Hum. Mol. Genet. 16(R2), R134-R139. Challenges in human genetic diversity: demographic history and adaptation. Article available as Open Access from journal website.
• Jobling, M.A. (2008) Surnames and genetics. In Encyclopedia of Life Sciences. John Wiley & Sons, Ltd: Chichester [DOI: 10.1002/9780470015902.a0005963.pub2]
• Jobling, M.A. (2008) Biol. Sci. Rev., 20(4), 2-6. The Y chromosome: it’s a man thing.
• Jobling, M.A. (2008) Cytogenet. Genome Res., 123, 253-262. Copy number variation on the human Y chromosome.
• King, T.E. and Jobling, M.A. (2009) Trends Genet. 25, 351-360. What’s in a name? - Y chromosomes, surnames, and the genetic genealogy revolution. Authors' revised version of this article available here, published version here. Please visit the journal website.

  Textbook - Human Evolutionary Genetics: Origins, Peoples & Disease

• Jobling, M.A., Hurles, M.E. and Tyler-Smith, C. (2004) Human Evolutionary Genetics: origins, peoples and disease. London/New York: Garland Science Publishing, 523 pp. Sample chapters and all figures available for download from Garland. Buy from Amazon. Access reviews of this book in Human Genetics, Journal of Human Evolution, Journal of Medical Genetics, BioEssays, American Journal of Human Genetics and Antiquity.

  

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Teaching

I contribute to these courses:

• BS2026 Genes, Development & Inheritance
• BS3031 Human Genetics
• BS3041 Evolutionary Genetics
• MG2050 Current Issues in Medical Genetics
• MSc in Infection and Immunity

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Some links

Y-STR Haplotype Reference Database

The Y Chromosome Consortium

Elena Bosch at the Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, Barcelona

Matt Hurles at the Wellcome Trust Sanger Institute, Hinxton

Chris Tyler-Smith at the Wellcome Trust Sanger Institute, Hinxton

Last updated: 16th November 2009
Mark A. Jobling
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