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Article
Open AccessThe landscape of genomic structural variation in Indigenous Australians
Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing...
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Article
Open AccessGenetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration
Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Cu...
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Article
Open AccessPhenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse
Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in TMEM98 have been associated with ...
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Article
Open AccessExome-based investigation of the genetic basis of human pigmentary glaucoma
Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has...
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Article
Open AccessGenome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34...
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Article
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity
Resisting and tolerating microbes are alternative strategies to survive infection, but little is known about the evolutionary mechanisms controlling this balance. Here genomic analyses of anatomically modern h...
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Article
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide1. Both IOP and POAG are highly heritable2. We repor...
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Open AccessAnalysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-ana...
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Article
Open AccessProbability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database
Computational inference of mutation effects is necessary for genetic studies in which many mutations must be considered as etiologic candidates. Programs such as PolyPhen-2 predict the relative severity of dam...
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Article
Open AccessMammalian γ2 AMPK regulates intrinsic heart rate
AMPK is a conserved serine/threonine kinase whose activity maintains cellular energy homeostasis. Eukaryotic AMPK exists as αβγ complexes, whose regulatory γ subunit confers energy sensor function by binding a...
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Article
Open AccessENU-induced phenovariance in mice: inferences from 587 mutations
We present a compendium of N-ethyl-N-nitrosourea (ENU)-induced mouse mutations, identified in our laboratory over a period of 10 years either on the basis of phenotype or whole genome and/or whole exome sequencin...
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Article
The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow
B cells arise via a precise developmental pathway. Goodnow and Beutler report that mice bearing mutations in Atp11c, which encodes a phosphatidylserine 'flippase', have defective B cell generation in the adult bo...
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Article
An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence
Quiescence must be actively maintained in cells of the immune response. Beutler and colleagues describe a new mutant mouse, elektra, with defective control of T cell and monocyte quiescence; this defect maps to S...
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Article
Unravelling the association of partial T-cell immunodeficiency and immune dysregulation
Clinical severe T-cell immunodeficiencies (in many cases accompanied by deficiencies of other lymphocyte populations) are known to be caused by mutations in al...
