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Health Sciences profile

Dr David Markie

PositionSenior Lecturer
DepartmentDepartment of Pathology (Dunedin)
QualificationsBMedSc MB ChB PhD(Otago)
Research summaryClinical biochemistry and Molecular genetics

Research

We have an interest in the identification, characterisation and functional analysis of genes that contribute to the development of colorectal cancer. This includes genes responsible for rare inherited predispositions to cancer, as well as genes that are defective in the more common sporadic forms of cancer.

Approaches to the study of these genes have included linkage analysis in Peutz-Jeghers syndrome pedigrees to identify the responsible gene, and mutation surveys of the DNA mismatch repair genes and the mitotic spindle checkpoint genes in a series of sporadic colorectal cancers. We are also using yeast systems to analyse the function of human DNA mismatch repair gene variants and applying functional genomics approaches to further understand the mitotic spindle checkpoint pathway.

Publications

Halliday, B. J., Baynam, G., Ewans, L., Greenhalgh, L., Leventer, R. J., Pilz, D. T., … Markie, D. M., … Robertson, S. P., & Mandelstam, S. (2022). Distinctive brain malformations in Zhu-Tokita-Takenouchi-Kim syndrome. American Journal of Neuroradiology. Advance online publication. doi: 10.3174/ajnr.A7663

Powell, R. M., Pattison, S., Moravec, J. C., Bhat, B., Guirguis, N., Markie, D., Jones, G. T., … Print, C. G., Morison, I. M., Gavruskin, A., … Eccles, M. R., & Macaulay, E. C. (2022). Tuberous sclerosis complex: A complex case. Molecular Case Studies, 8, a006182. doi: 10.1101/mcs.a006182

Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528

Takei, R., Cadzow, M., Markie, D., Bixley, M., Phipps-Green, A., Major, T. J., … Stamp, L. K., … Merriman, T. R., & Wei, W.-H. (2021). Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects. Journal of Human Genetics, 66, 161-169. doi: 10.1038/s10038-020-0821-z

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11, 1439. doi: 10.3390/genes11121439

Markie, D. M. (Ed.). (1996). YAC Protocols. (Methods in Molecular Biology 54). Totowa, NJ: Humana Press, 372p. doi: 10.1385/0896033139

Edited Book - Research

Markie, D. (2006). Markers, selection, and media in yeast artificial chromosome cloning. In A. MacKenzie (Ed.), YAC Protocols. (2nd ed.) (pp. 1-12). Totowa, NJ: Humana Press.

Chapter in Book - Research

Markie, D., Jones, E., & Ragoussis, J. (2006). Genomic reconstruction by serial mitotic recombination of yeast artificial chromosomes. In A. MacKenzie (Ed.), YAC Protocols. (2nd ed.) (pp. 117-126). Totowa, NJ: Humana Press.

Chapter in Book - Research

Markie, D. M. (1996). Markers, selection, and media in YAC cloning. In D. M. Markie (Ed.), YAC Protocols. (Methods in Molecular Biology 54). (pp. 359-371). Totowa, NJ: Humana Press.

Chapter in Book - Research

Markie, D. M., & Ragoussis, I. (1995). Genomic reconstruction by mitotic recombination of YACs. In D. M. Markie (Ed.), YAC Protocols. (Methods in Molecular Biology 54). (pp. 217-230). Totowa, NJ: Humana Press.

Chapter in Book - Research

Halliday, B. J., Baynam, G., Ewans, L., Greenhalgh, L., Leventer, R. J., Pilz, D. T., … Markie, D. M., … Robertson, S. P., & Mandelstam, S. (2022). Distinctive brain malformations in Zhu-Tokita-Takenouchi-Kim syndrome. American Journal of Neuroradiology. Advance online publication. doi: 10.3174/ajnr.A7663

Journal - Research Article

Powell, R. M., Pattison, S., Moravec, J. C., Bhat, B., Guirguis, N., Markie, D., Jones, G. T., … Print, C. G., Morison, I. M., Gavruskin, A., … Eccles, M. R., & Macaulay, E. C. (2022). Tuberous sclerosis complex: A complex case. Molecular Case Studies, 8, a006182. doi: 10.1101/mcs.a006182

Journal - Research Article

Takei, R., Cadzow, M., Markie, D., Bixley, M., Phipps-Green, A., Major, T. J., … Stamp, L. K., … Merriman, T. R., & Wei, W.-H. (2021). Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects. Journal of Human Genetics, 66, 161-169. doi: 10.1038/s10038-020-0821-z

Journal - Research Article

Peng, H., Jenkins, Z. A., White, R., Connors, S., Hunter, M. F., Ronan, A., … Markie, D. M., … Robertson, S. P. (2020). An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia. Journal of Clinical Endocrinology & Metabolism, 105(3), 688-695. doi: 10.1210/clinem/dgaa034

Journal - Research Article

Gowans, L. J. J., Cameron-Christie, S., Slayton, R. L., Busch, T., Romero-Bustillos, M., Eliason, S., … Drummond, B. K., Markie, D. M., Jansen van Vuuren, W., Jansen Van Vuuren, L., … van Staden, I., … Robertson, S. P., & Butali, A. (2019). Missense pathogenic variants in KIF4A affect dental morphogenesis resulting in X-linked taurodontism, microdontia and dens-invaginatus. Frontiers in Genetics, 10, 800. doi: 10.3389/fgene.2019.00800

Journal - Research Article

Cameron-Christie, S. R., Wells, C. F., Simon, M., Wessels, M., Tang, C. Z. N., Wei, W., Takei, R., … Markie, D. M., Jenkins, Z. A., & Robertson, S. P. (2018). Recessive spondylocarpotarsal synostosis syndrome due to compound heterozygosity for variants in MYH3. American Journal of Human Genetics, 102(6), 1115-1125. doi: 10.1016/j.ajhg.2018.04.008

Journal - Research Article

Cameron-Christie, S. R., Wilde, J., Gray, A., Tankard, R., Bahlo, M., Markie, D., … Robertson, S. P. (2018). Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family. BMC Medical Genomics, 11, 121. doi: 10.1186/s12920-018-0440-0

Journal - Research Article

Halliday, B. J., Fukuzawa, R., Markie, D. M., Grundy, R. G., Ludgate, J. L., Black, M. A., … Weeks, R. J., … Morison, I. M. (2018). Germline mutations and somatic inactivation of TRIM28 in Wilms tumour. PLoS Genetics, 14(6), e1007399. doi: 10.1371/journal.pgen.1007399

Journal - Research Article

Jenkins, Z. A., Macharg, A., Chang, C.-Y., van Kogelenberg, M., Morgan, T., Frentz, S., Wei, W., … Markie, D. M., … Robertson, S. P. (2018). Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Human Mutation, 39(1), 103-113. doi: 10.1002/humu.23355

Journal - Research Article

McKeown, C., Connors, S., Stapleton, R., Morgan, T., Hayes, I., Neas, K., … Markie, D. M., … Robertson, S. P. (2018). A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Journal of the Royal Society of New Zealand, 48(4), 262-279. doi: 10.1080/03036758.2018.1464033

Journal - Research Article

O'Neill, A. C., Kyrousi, C., Einsiedler, M., Burtscher, I., Drukker, M., Markie, D. M., … Robertson, S. P., & Cappello, S. (2018). Mob2 insufficiency disrupts neuronal migration in the developing cortex. Frontiers in Cellular Neuroscience, 12, 57. doi: 10.3389/fncel.2018.00057

Journal - Research Article

O'Neill, A. C., Kyrousi, C., Klaus, J., Leventer, R. J., Kirk, E. P., Fry, A., … Markie, D. M., … Robertson, S. P. (2018). A primate-specific Isoform of PLEKHG6 regulates neurogenesis and neuronal migration. Cell Reports, 25(10), 2729-2741. doi: 10.1016/j.celrep.2018.11.029

Journal - Research Article

Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., … Morgan, T., … Markie, D. M., … Robertson, S. P., … Engle, E. C. (2017). A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications, 8, 16077. doi: 10.1038/ncomms16077

Journal - Research Article

Glendining, K. A., Markie, D., Gardner, R. J. M., Franz, E. A., Robertson, S. P., & Jasoni, C. L. (2017). A novel role for the DNA repair gene Rad51 in Netrin-1 signalling. Scientific Reports, 7, 39823. doi: 10.1038/srep39823

Journal - Research Article

Méneret, A., Franz, E. A., Trouillard, O., Oliver, T. C., Zagar, Y., Robertson, S. P., … Gardner, R. J. M., … Jasoni, C. L., … Markie, D. (2017). Mutations in the netrin-1 gene cause congenital mirror movements. Journal of Clinical Investigation, 127(11), 3923-3936. doi: 10.1172/jci95442

Journal - Research Article

Stayner, C., Poole, C. A., McGlashan, S. R., Pilanthananond, M., Brauning, R., Markie, D., … Slobbe, L., … Parker, K., Wiles, A., … Leichter, A., Leask, M., … Jennings, M., Horsfield, J. A., Walker, R. J., & Eccles, M. R. (2017). An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Scientific Reports, 7, 1601. doi: 10.1038/s41598-017-01519-4

Journal - Research Article

Oliver, V. F., van Bysterveldt, K. A., Cadzow, M., Steger, B., Romano, V., Markie, D., … Vincent, A. L. (2016). A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions. Ophthalmology, 123(4), 709-722. doi: 10.1016/j.ophtha.2015.12.008

Journal - Research Article

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., … Markie, D. M., & Robertson, S. P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Journal - Research Article

Bunn, K. J., Daniel, P., Rösken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., … Markie, D. M., & Robertson, S. P. (2015). Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics, 96(4), 623-630. doi: 10.1016/j.ajhg.2015.02.010

Journal - Research Article

Franz, E. A., Chiaroni-Clarke, R., Woodrow, S., Glendining, K. A., Jasoni, C. L., Robertson, S. P., Gardner, R. J. M., & Markie, D. (2015). Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations. Journal of the Neurological Sciences, 351(1-2), 140-145. doi: 10.1016/j.jns.2015.03.006

Journal - Research Article

Gray, M. J., Kannu, P., Sharma, S., Neyt, C., Zhang, D., Paria, N., Daniel, P. B., … Wilson, M. J., … Markie, D. M., … Robertson, S. P. (2015). Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia. American Journal of Human Genetics, 97(6), 837-847. doi: 10.1016/j.ajhg.2015.11.001

Journal - Research Article

Cappello, S., Gray, M. J., Badouel, C., Lange, S., Einsiedler, M., Srour, M., … Jenkins, Z. A., Morgan, T., Preitner, N., … Black, M. A., Markie, D., … Robertson, S. P. (2013). Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nature Genetics, 45(11), 1300-1308. doi: 10.1038/ng.2765

Journal - Research Article

Tiffin, H. R., Jenkins, Z. A., Gray, M. J., Cameron-Christie, S. R., Eaton, J., Aftimos, S., Markie, D., & Robertson, S. P. (2013). Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery—Dreifuss muscular dystrophy plus phenotype. Neurogenetics, 14(2), 113-121. doi: 10.1007/s10048-013-0359-8

Journal - Research Article

Debono, R., Topless, R., Markie, D., Black, M. A., & Merriman, T. R. (2012). Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia. Genes, Brain & Behavior, 11(7), 859-963. doi: 10.1111/j.1601-183X.2012.00832.x

Journal - Research Article

Wilson, J., Markie, D., & Fitches, A. (2012). Cholecystokinin system genes: Associations with panic and other psychiatric disorders. Journal of Affective Disorders, 136(3), 902-908. doi: 10.1016/j.jad.2011.09.011

Journal - Research Article

Sears, C., Markie, D., Olds, R., & Fitches, A. (2011). Evidence of associations between bipolar disorder and the brain-derived neurotrophic factor (BDNF) gene. Bipolar Disorders, 13(7-8), 630-637. doi: 10.1111/j.1399-5618.2011.00955.x

Journal - Research Article

Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., … Markie, D., Gray, M., … Robertson, S., … Kornak, U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021. doi: 10.1038/ng.413

Journal - Research Article

Vincent, A. L., Markie, D. M., De Karolyi, B., Wheeldon, C. E., & Patel, D. V. (2009). Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. Molecular Vision, 15(182), 1700-1708.

Journal - Research Article

van Roij, M. H. H., Mizumoto, S., Yamada, S., Morgan, T., Tan-Sindhunata, M. B., Meijers-Heijboer, H., … Markie, D., … Robertson, S. P. (2008). Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype. American Journal of Medical Genetics Part A, 146A(18), 2376-2384. doi: 10.1002/ajmg.a.32482

Journal - Research Article

Prime, G., & Markie, D. (2005). The telomere repeat binding protein Trf1 interacts with the spindle checkpoint protein Mad1 and Nek2 mitotic kinase. Cell Cycle, 4(1), 121-124.

Journal - Research Article

Semple, J. I., Prime, G., Wallis, L. J., Sanderson, C. M., & Markie, D. (2005). Two-hybrid reporter vectors for gap repair cloning. Biotechniques, 38(6), 927-934.

Journal - Research Article

Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., … Markie, D., … Eng, C. (2001). Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. American Journal of Human Genetics, 69, 704-711.

Journal - Research Article

Morris, C. M., Haataja, L., McDonald, M., Gough, S., Markie, D., Groffen, J., & Heisterkamp, N. (2000). The small GTPase RAC3 gene is located within chromosome band 17q25.3 outside and telomeric of a region commonly deleted in breast and ovarian tumours. Cytogenetics & Cell Genetics, 89, 18-23.

Journal - Research Article

Woodford-Richens, K., Bevan, S., Churchman, M., Dowling, B., Jones, D., Norbury, C. G., … Markie, D. M., … Houlston, R. S. (2000). Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut, 46, 656-660.

Journal - Research Article

Bevan, S., Woodford-Richens, K., Rozen, P., Eng, C., Young, J., Dunlop, M., … Markie, D. M., … Tomlinson, I. (1999). Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis sydrome. Gut, 45, 406-408.

Journal - Research Article

Ylikorkala, A., Avizienyte, E., Tomlinson, I., Tiainen, M., Roth, S., Loukola, A., … Markie, D., … Aaltonen, L. (1999). Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Human Molecular Genetics, 8, 45-51.

Journal - Research Article

Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A., … Toro, T., … Aaltonen, L. (1998). A serine / threonine kinase gene defective in Peutz-Jeghers syndrome. Nature, 391, 184-187.

Journal - Research Article

Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., … Markie, D., … Tomlinson, I. (1998). Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Human Molecular Genetics, 7, 1907-1912.

Journal - Research Article

Olschwang, S., Markie, D., Seal, S., Neale, K., Phillips, R., Cottrell, S., … Tomlinson, I. (1998). Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. Journal of Medical Genetics, 35, 42-44.

Journal - Research Article

Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., … Markie, D., … Tagle, D. A. (1997). Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science, 277(5323), 228-231.

Journal - Research Article

Hemminki, A., Tomlinson, I., Markie, D., Järvinen, H., Sistonen, P., Björkqvist, A.-M., … Aaltonen, L. A. (1997). Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nature Genetics, 15(1), 87-90.

Journal - Research Article

Marsh, D., Roth, S., Lunetta, K., Hemminki, A., Dahia, P., Sistonen, P., … Markie, D., … Eng, C. (1997). Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Research, 57(22), 5017-5021.

Journal - Research Article

Tomlinson, I., Beck, N., Homfray, T., Harocopos, C., Adams, M., Hodgson, S., Markie, D., & Bodmer, W. (1997). Molecular and clinico-pathological features of two families with the HNPCC syndrome and unusual phenotypes. GI Cancer, 2, 89-98.

Journal - Research Article

Markie, D. M. (1996). A simple assay for optimizing yeast-mammalian cell fusion conditions. Molecular Biotechnology, 6(2), 99-104.

Journal - Research Article

Markie, D. M., Husos, S., Maher, E., Davies, A. F., Tomlinson, I., & Bodmer, W. F. (1996). A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. Human Genetics, 98, 125-128.

Journal - Research Article

Thomas, H. W. J., Whitelaw, S. C., Cottrell, S. E., Murday, V. A., Tomlinson, I. P. M., Markie, D. M., … Bodmer, W. F. (1996). Genetic mapping of hereditary mixed polyposis syndrome to chromosone 6q. American Journal of Human Genetics, 58, 770-776.

Journal - Research Article

Tomlinson, I. P. M., Olschwang, S., Abelovitch, D., Nakamura, Y., Bodmer, W. F., Thomas, G., & Markie, D. M. (1996). Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease. Annals of Human Genetics, 60(5), 377-384.

Journal - Research Article

Markie, D. M. (1995). Arrayed preparation of YAC DNA for pulsed field gel analysis. Nucleic Acids Research, 23, 4526-4527.

Journal - Research Article

Fukushima, K., Parthasarathy, P., Wade, E. M., Morgan, T., Gowrishankar, K., Markie, D. M., & Robertson, S. P. (2021). Intragenic deletions in FLNB are part of the mutational spectrum causing spondylocarpotarsal synostosis syndrome. Genes, 12(4), 528. doi: 10.3390/genes12040528

Journal - Research Other

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics, 28, 445-452. doi: 10.1038/s41431-019-0546-7

Journal - Research Other

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J. M., Markie, D., Robertson, S. P., & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11, 1439. doi: 10.3390/genes11121439

Journal - Research Other

Wilson, J., Markie, D., & Fitches, A. (2011). Analysis of associations for candidate genes with anxiety disorders [Letter to the editor]. Psychiatry Research, 189(30), 624-625. doi: 10.1016/j.psychres.2011.06.021

Journal - Research Other

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