James Marthick

• The Royal Hobart Hospital

Quantifying genetic connectivity between populations of a species is important to understand its conservation and management needs. Genetic connectivity implies gene flow among discrete populations occurring via the dispersal of individuals outside their population of origin, followed by reproduction. This process can be biased between sexes, with...

Rare, inherited variants in DNA damage repair (DDR) genes have a recognised role in prostate cancer (PrCa) susceptibility. In addition, these genes are therapeutically targetable. While rare variants are informing clinical management in other common cancers, defining the rare disease-associated variants in PrCa has been challenging. Here, whole-gen...

Abstract The Bull Shark (Carcharhinus leucas) faces varying levels of exploitation around the world due to its coastal distribution. Information regarding population connectivity is crucial to evaluate its conservation status and local fishing impacts. In this study, we sampled 922 putative Bull Sharks from 19 locations in the first global assessme...

The viability of spatially structured populations depends on the abundance and connectivity between subpopulations of breeding adults. Yet, for many species, both are extremely difficult to assess. The speartooth shark is a critically endangered elasmobranch inhabiting tropical rivers with only three adults ever recorded in Australia. Close-kin mar...

Recurrent tumour copy number variations (CNVs) in prostate cancer (PrCa) have predominantly been discovered in sporadic tumour cohorts. Here, we examined familial prostate tumours for novel CNVs as prior studies suggest these harbour distinct CNVs. Array comparative genomic hybridisation of twelve tumours from an Australian PrCa family, PcTas9, hig...

Understanding the population structure of a species is important to accurately assess its conservation status and manage the risk of local extinction. The Bull Shark ( Carcharhinus leucas ) faces varying levels of exploitation around the world due to its coastal distribution. Information regarding population connectivity is crucial to evaluate its...

Background Knowledge of rare, inherited variants in DNA damage repair (DDR) genes is informing clinical management in common cancers. However, defining the rare disease- associated variants in prostate cancer (PrCa) is challenging due to their low frequency. Method Here, whole-genome and -exome sequencing data from two independent, high- risk Aust...

Elasmobranchs are one of the most highly-threatened vertebrate taxa. Estimating abundance of spawning adults is often extremely challenging, yet crucial for prioritization of conservation measures. Emblematic of these challenges, the speartooth shark (Glyphis glyphis, Mulller and Henle, 1839) was initially known only from rare specimens collected i...

There is strong interest in the characterisation of gene fusions and their use to enhance clinical practices in prostate cancer (PrCa). Significantly, ~50% of prostate tumours harbour a gene fusion. Inherited factors are thought to predispose to these events but, to date, only one study has investigated gene fusions in a familial context. Here, we...

Prostate cancer (PrCa) is highly heritable, and although rare variants contribute significantly to PrCa risk, few have been identified to date. Herein, whole‐genome sequencing was performed in a large PrCa family featuring multiple affected relatives spanning several generations. A rare, predicted splice site EZH2 variant, rs78589034 (G > A), was i...

Glacial relict plants are often endangered because extant populations can be small, geographically isolated and persist in suboptimal environments, leading to increased clonality and reduced genetic diversity putting their survival at further risk. This study examines how restriction to interglacial refugia has impacted the genetic diversity and st...

Nuclear Expressed Sequence Tag (EST) microsatellite markers were developed for the Tasmanian palaeoendemic conifer Lagarostrobos franklinii (Hook.-f.) Quinn for genetic studies. RNAseq data was mined for EST microsatellites, and primer pairs were synthesised from 70 contigs with 50 producing amplification products. Of these 50, 10 reliably amplifie...

Multiple endocrine neoplasia type 1 (MEN 1) has marked severity variation between individuals with the same mutation. To investigate any relationship between promoter methylation and clinical features, blood and tissue samples were collected from 16 members of the Tasman 1 MEN 1 kindred carrying a common splice site mutation and 7 patients with spo...

PREMISE OF THE STUDY: Nuclear microsatellite markers were developed for population genetic analysis of the threatened paleoendemic conifer Pherosphaera hookeriana (Podocarpaceae). METHODS AND RESULTS: Fifteen variable loci were identified showing one to 13 alleles per population, with seven loci displaying at least four alleles in all populations,...

Blue whales are little studied, face significant anthropogenic threats and within the Northern Indian Ocean, have a restricted range, making them an archetype for conservation needs of megafauna around the world. We studied feeding behavior of blue whales using dietary DNA metabarcoding of fecal samples. While globally blue whale populations feed p...

The HOXB13 G84E variant is associated with risk of prostate cancer (PCa), however the role this variant plays in PCa development is unknown. This study examined 751 cases, 450 relatives and 355 controls to determine the contribution of this variant to PCa risk in Tasmania and investigated HOXB13 gene and protein expression in tumours from nine G84E...

The application of rapid and affordable genome sequencing technologies to families with a high incidence of hematological malignancies (HMs) provides significant opportunities for understanding the genetic causes of these cancers.1 In one of the few studies published to date using this approach, Goldin et al recently reported that a rare variant (r...

Aim The impacts of Holocene fires on the genetic architecture of fire‐intolerant species have largely been overlooked. Here, we investigate the relative impacts of the last glacial climate versus Holocene fires on the genetic diversity of two co‐occurring, fire‐intolerant conifers using a comparative population genetic study. Location The palaeoen...

Measuring population connectivity is a critical task in conservation biology. While genetic markers can provide reliable long-term historical estimates of population connectivity, scientists are still limited in their ability to determine contemporary patterns of gene flow, the most practical time frame for management. Here, we tackled this issue b...

Background: Human methylome mapping in health and disease states has largely relied on Illumina Human Methylation 450k array (450k array) technology. Accompanying this has been the necessary evolution of analysis pipelines to facilitate data processing. The majority of these pipelines, however, cater for experimental designs where matched 'control...

The Patagonian toothfish, Dissostichus eleginoides , is a valuable fishery species and has a discontinuous distribution across the Southern Ocean. Identification of the genetic stock structure of toothfish would allow evaluation of the suitability of the spatial scale at which fisheries management operates. Genetic subdivision seems likely given th...

Premise of the study: Homoploid hybrid speciation is receiving growing attention due the increasing recognition of its role in speciation. We investigate if individuals intermediate in morphology between the two species of the conifer genus Athrotaxis represent a homoploid hybrid species, A. laxifolia, or are spontaneous F1 hybrids. Methods: A t...

The largetooth sawfish Pristis pristis (Linnaeus, 1758) is a highly threatened euryhaline elasmobranch that in recent times has undergone a significant range contraction. It now only remains in a few areas, with northern Australia being the main stronghold. Previous work using a single mitochondrial gene approach suggested the existence of regional...

Integrin alpha2 beta1 (α2 β1 ) plays an integral role in tumour cell invasion, metastasis and angiogenesis, and altered expression of the receptor has been linked to tumour prognosis in several solid tumours. However, the relationship is complex, with both increased and decreased expression associated with different stages of tumour metastases in s...

Telomere length has a biological link to cancer, with excessive telomere shortening leading to genetic instability and resultant malignant transformation. Telomere length is heritable and genetic variants determining telomere length have been identified. Telomere biology has been implicated in the development of hematological malignancies (HMs), th...

Vulvar cancer is a relatively rare gynaecological malignancy, the treatment of which is associated with significant patient morbidity. With reports that the incidence of vulvar cancer is increasing, there is a rising need for improved preventive, diagnostic and therapeutic tools. Recent advances within genetics and epigenetics present possible appr...

Objective A cluster of vulvar cancer exists in young Aboriginal women living in remote communities in Arnhem Land, Australia. A genetic case–control study was undertaken involving 30 cases of invasive vulvar cancer and its precursor lesion, high-grade vulvar intraepithelial neoplasia (VIN), and 61 controls, matched for age and community of residenc...

Humpback whales undertake long-distance seasonal migrations between low latitude winter breeding grounds and high latitude summer feeding grounds. We report the first in-depth population genetic study of the humpback whales that migrate to separate winter breeding grounds along the northwestern and northeastern coasts of Australia, but overlap on s...

The Adélie penguin is the most important animal currently used for ecosystem monitoring in the Southern Ocean. The diet of this species is generally studied by visual analysis of stomach contents; or ratios of isotopes of carbon and nitrogen incorporated into the penguin from its food. There are significant limitations to the information that can b...

Genome-wide association studies (GWAS) have identified multiple common genetic variants associated with an increased risk of prostate cancer (PrCa), but these explain less than one third of the heritability. To identify further susceptibility alleles, we conducted a meta-analysis of four genome-wide association studies (GWAS) including 5,953 cases...

The genetic architecture underpinning prostate cancer is complex, polygenic and despite recent significant advances many questions remain. Advances in genetic technologies have greatly improved our ability to identify genetic variants associated with complex disease including prostate cancer. Genome-wide association studies (GWASs) and microarray g...

The cool temperate rainforests of Australia were much reduced in range during the cold and dry glacial periods, although genetic evidence indicates that two key rainforest species, Nothofagus cunninghamii and Tasmannia lanceolata, survived within multiple locations and underwent only local range expansions at the end of the Last Glacial. To better...

Prostate cancer (PrCa) is the most frequently diagnosed male cancer in developed countries. We conducted a multi-stage genome-wide association study for PrCa and previously reported the results of the first two stages, which identified 16 PrCa susceptibility loci. We report here the results of stage 3, in which we evaluated 1,536 SNPs in 4,574 indi...

Few chloroplast-based genetic studies have been undertaken for plants of mesic temperate forests in the southern hemisphere and fossil-based models have provided evidence of vegetation history only at the broadest scales in this region. This study investigates the chloroplast DNA phylogeography of Tasmannia lanceolata (Winteraceae), a fleshy-fruite...