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Article ; Online: Reviewing the Pathogenic Potential of the Otitis-Associated Bacteria

Lappan, Rachael / Jamieson, Sarra E / Peacock, Christopher S

Frontiers in cellular and infection microbiology

2020 Volume 10, Page(s) 51

Abstract: Alloiococcus ... ...

Abstract	Alloiococcus otitidis
MeSH term(s)	Bacteria ; Carnobacteriaceae ; Child ; Corynebacterium ; Humans ; Otitis Media
Language	English
Publishing date	2020-02-14
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2619676-1
ISSN	2235-2988 ; 2235-2988
ISSN (online)	2235-2988
ISSN	2235-2988
DOI	10.3389/fcimb.2020.00051
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Article ; Online: An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation.

Syn, Genevieve / Blackwell, Jenefer M / Jamieson, Sarra E / Francis, Richard W

Memorias do Instituto Oswaldo Cruz

2018 Volume 113, Issue 6, Page(s) e170471

Abstract: Toxoplasma gondii uses epigenetic mechanisms to regulate both endogenous and host cell gene expression. To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins. Step ... ...

Abstract	Toxoplasma gondii uses epigenetic mechanisms to regulate both endogenous and host cell gene expression. To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins. Step 1 employs PredictNLS and NucPred to identify genes predicted to target eukaryotic nuclei. Step 2 uses GOLink to identify proteins of epigenetic function based on Gene Ontology terms. This resulted in 611 putative nuclear localised proteins with predicted epigenetic functions. Step 3 filtered for secretory proteins using SignalP, SecretomeP, and experimental data. This identified 57 of the 611 putative epigenetic proteins as likely to be secreted. The pipeline is freely available online, uses open access tools and software with user-friendly Perl scripts to automate and manage the results, and is readily adaptable to undertake any such in silico search for genes contributing to particular functions.
MeSH term(s)	Cell Nucleus/parasitology ; Computer Simulation ; Epigenesis, Genetic/genetics ; Host-Parasite Interactions/physiology ; Proteome/genetics ; Toxoplasma/genetics ; Toxoplasma/physiology
Chemical Substances	Proteome
Language	English
Publishing date	2018
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	953293-6
ISSN	1678-8060 ; 0074-0276
ISSN (online)	1678-8060
ISSN	0074-0276
DOI	10.1590/0074-02760170471
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Article ; Online: Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways.

Syn, Genevieve / Anderson, Denise / Blackwell, Jenefer M / Jamieson, Sarra E

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases

2018 Volume 65, Page(s) 159–162

Abstract: Recent interest has focussed on the influence of infectious disease organisms on the host epigenome. Toxoplasma gondii infection acquired congenitally or in early life is associated with severe ocular and brain developmental anomalies, while persistent ... ...

Abstract	Recent interest has focussed on the influence of infectious disease organisms on the host epigenome. Toxoplasma gondii infection acquired congenitally or in early life is associated with severe ocular and brain developmental anomalies, while persistent asymptomatic infection is a proposed risk factor for neurodegenerative and psychiatric disorders, including Parkinson's and Alzheimer's Diseases, and schizophrenia. Genome-wide analysis of the host methylome and transcriptome following T. gondii infection in a retinal cell line identified genes (132, 186 and 128 genes at 2, 6 and 24 h post-infection) concordant for methylation and expression, i.e. hypermethylated and decreased expression or hypomethylated and increased expression. Pathway analyses showed perturbation of two neurologically-associated pathways: dopamine-DARPP32 feedback in cAMP signalling (p-value = 8.3 × 10
MeSH term(s)	Amyloid/genetics ; Amyloid/metabolism ; Cell Line ; Dopamine/genetics ; Dopamine/metabolism ; Epigenesis, Genetic ; Eye/cytology ; Eye Infections, Parasitic/genetics ; Eye Infections, Parasitic/metabolism ; Gene Expression Regulation ; Host-Parasite Interactions/genetics ; Humans ; Toxoplasma/pathogenicity ; Toxoplasmosis/genetics ; Toxoplasmosis/metabolism
Chemical Substances	Amyloid ; Dopamine (VTD58H1Z2X)
Language	English
Publishing date	2018-07-26
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2037068-4
ISSN	1567-7257 ; 1567-1348
ISSN (online)	1567-7257
ISSN	1567-1348
DOI	10.1016/j.meegid.2018.07.034
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Zs.A 5645: Show issues

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Article ; Online: Toxoplasma gondii

Syn, Genevieve / Anderson, Denise / Blackwell, Jenefer M / Jamieson, Sarra E

Frontiers in cellular and infection microbiology

2017 Volume 7, Page(s) 512

Abstract: Upon invasion of host cells, the ubiquitous ... ...

Abstract	Upon invasion of host cells, the ubiquitous pathogen
MeSH term(s)	Cells, Cultured ; Fibroblasts/parasitology ; Gene Expression Profiling ; Humans ; Mitochondria/metabolism ; Mitochondria/pathology ; Toxoplasma/growth & development ; Toxoplasmosis/pathology
Language	English
Publishing date	2017-12-12
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2619676-1
ISSN	2235-2988 ; 2235-2988
ISSN (online)	2235-2988
ISSN	2235-2988
DOI	10.3389/fcimb.2017.00512
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Article: Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways

Syn, Genevieve / Anderson, Denise / Blackwell, Jenefer M / Jamieson, Sarra E

Infection, genetics, and evolution. 2018 Nov., v. 65

2018

Abstract	Recent interest has focussed on the influence of infectious disease organisms on the host epigenome. Toxoplasma gondii infection acquired congenitally or in early life is associated with severe ocular and brain developmental anomalies, while persistent asymptomatic infection is a proposed risk factor for neurodegenerative and psychiatric disorders, including Parkinson's and Alzheimer's Diseases, and schizophrenia. Genome-wide analysis of the host methylome and transcriptome following T. gondii infection in a retinal cell line identified genes (132, 186 and 128 genes at 2, 6 and 24 h post-infection) concordant for methylation and expression, i.e. hypermethylated and decreased expression or hypomethylated and increased expression. Pathway analyses showed perturbation of two neurologically-associated pathways: dopamine-DARPP32 feedback in cAMP signalling (p-value = 8.3 × 10−5; adjusted p-value = 0.020); and amyloid processing (p-value = 1.0 × 10−3; adjusted p-value = 0.043). Amyloid Precursor Protein (APP) decreased in level following T. gondii infection. These results are of interest given the expression of APP early in nervous system development affecting neural migration and the role of amyloid processing in Alzheimer's disease, while dopamine has roles in the developing retina as well as in Parkinson's disease and schizophrenia. Our results provide a possible functional link between T. gondii infection and congenital/early life and adult neurological clinical signs.
Keywords	Alzheimer disease ; Parkinson disease ; Toxoplasma gondii ; adults ; amyloid ; brain ; cell lines ; cyclic AMP ; dopamine ; epigenetics ; gene expression ; genes ; genome-wide association study ; infectious diseases ; methylation ; neurodevelopment ; retina ; risk factors ; schizophrenia ; signs and symptoms (animals and humans) ; toxoplasmosis ; transcriptome
Language	English
Dates of publication	2018-11
Size	p. 159-162.
Publishing place	Elsevier B.V.
Document type	Article
ZDB-ID	2037068-4
ISSN	1567-1348
ISSN	1567-1348
DOI	10.1016/j.meegid.2018.07.034
Database	NAL-Catalogue (AGRICOLA)

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Zs.A 5645: Show issues

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Article ; Online: Does Otitis Media Affect Later Language Ability? A Prospective Birth Cohort Study.

Brennan-Jones, Christopher G / Whitehouse, Andrew J O / Calder, Samuel D / Costa, Cheryl Da / Eikelboom, Robert H / Swanepoel, De Wet / Jamieson, Sarra E

Journal of speech, language, and hearing research : JSLHR

2020 Volume 63, Issue 7, Page(s) 2441–2452

Abstract: Purpose The aim of the study was to examine whether otitis media (OM) in early childhood has an impact on language development in later childhood. Methods We analyzed data from 1,344 second-generation (Generation 2) participants in the Raine Study, a ... ...

Abstract	Purpose The aim of the study was to examine whether otitis media (OM) in early childhood has an impact on language development in later childhood. Methods We analyzed data from 1,344 second-generation (Generation 2) participants in the Raine Study, a longitudinal pregnancy cohort established in Perth, Western Australia, between 1989 and 1991. OM was assessed clinically at 6 years of age. Language development was measured using the Peabody Picture Vocabulary Test-Revised (PPVT-R) at 6 and 10 years of age and the Clinical Evaluation of Language Fundamentals-Third Edition at 10 years of age. Logistic regression analysis accounted for a wide range of social and environmental covariates. Results There was no significant relationship between bilateral OM and language ability at 6 years of age (β = -0.56 [-3.78, 2.66],
MeSH term(s)	Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Language Development ; Otitis Media/epidemiology ; Pregnancy ; Prospective Studies ; Vocabulary
Language	English
Publishing date	2020-06-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1364086-0
ISSN	1558-9102 ; 1092-4388
ISSN (online)	1558-9102
ISSN	1092-4388
DOI	10.1044/2020_JSLHR-19-00005
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Zs.A 606: Show issues

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Article ; Online: Genetic and environmental factors in the aetiology of hypospadias.

George, Mathew / Schneuer, Francisco J / Jamieson, Sarra E / Holland, Andrew J A

Pediatric surgery international

2015 Volume 31, Issue 6, Page(s) 519–527

Abstract: This article reviews the current evidence and knowledge of the aetiology of hypospadias. Hypospadias remains a fascinating anomaly of the male phallus. It may be an isolated occurrence or part of a syndrome or field defect. The increasing use of assisted ...

Abstract	This article reviews the current evidence and knowledge of the aetiology of hypospadias. Hypospadias remains a fascinating anomaly of the male phallus. It may be an isolated occurrence or part of a syndrome or field defect. The increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the incidence of hypospadias. Genetic studies and gene analysis have suggested some defects that could result in hypospadias. New light has also been thrown on environmental factors that could modulate candidate genes, causing altered development of the male external genitalia.
MeSH term(s)	Animals ; Humans ; Hypospadias/embryology ; Hypospadias/etiology ; Hypospadias/genetics ; Male ; Mice ; Urethra/embryology
Language	English
Publishing date	2015-06
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	632773-4
ISSN	1437-9813 ; 0179-0358
ISSN (online)	1437-9813
ISSN	0179-0358
DOI	10.1007/s00383-015-3686-z
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Article: Reduced

Prêle, Cecilia M / Iosifidis, Thomas / McAnulty, Robin J / Pearce, David R / Badrian, Bahareh / Miles, Tylah / Jamieson, Sarra E / Ernst, Matthias / Thompson, Philip J / Laurent, Geoffrey J / Knight, Darryl A / Mutsaers, Steven E

Biomedicines

2021 Volume 9, Issue 5

Abstract: The interleukin (IL)-6 family of cytokines and exaggerated signal transducer and activator of transcription (STAT)3 signaling is implicated in idiopathic pulmonary fibrosis (IPF) pathogenesis, but the mechanisms regulating STAT3 expression and function ... ...

Abstract	The interleukin (IL)-6 family of cytokines and exaggerated signal transducer and activator of transcription (STAT)3 signaling is implicated in idiopathic pulmonary fibrosis (IPF) pathogenesis, but the mechanisms regulating STAT3 expression and function are unknown. Suppressor of cytokine signaling (SOCS)1 and SOCS3 block STAT3, and low SOCS1 levels have been reported in IPF fibroblasts and shown to facilitate collagen production. Fibroblasts and lung tissue from IPF patients and controls were used to examine the mechanisms underlying SOCS1 down-regulation in IPF. A significant reduction in basal
Language	English
Publishing date	2021-04-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines9050498
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Article ; Online: Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population.

Jamieson, Sarra E / Fakiola, Michaela / Tang, Dave / Scaman, Elizabeth / Syn, Genevieve / Francis, Richard W / Coates, Harvey L / Anderson, Denise / Lassmann, Timo / Cordell, Heather J / Blackwell, Jenefer M

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America

2021 Volume 73, Issue 10, Page(s) 1860–1870

Abstract: Background: Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.: Methods: Illumina® Omni2.5 BeadChip and imputed data were compared between 21 children with severe OM (multiple episodes chronic ... ...

Abstract	Background: Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. Methods: Illumina® Omni2.5 BeadChip and imputed data were compared between 21 children with severe OM (multiple episodes chronic suppurative OM and/or perforations or tympanic sclerosis) and 370 individuals without this phenotype, followed by FUnctional Mapping and Annotation (FUMA). Exome data filtered for common (EXaC_all ≥ 0.1) putative deleterious variants influencing protein coding (CADD-scaled scores ≥15] were used to compare 15 severe OM cases with 9 mild cases (single episode of acute OM recorded over ≥3 consecutive years). Rare (ExAC_all ≤ 0.01) such variants were filtered for those present only in severe OM. Enrichr was used to determine enrichment of genes contributing to pathways/processes relevant to OM. Results: FUMA analysis identified 2 plausible genetic risk loci for severe OM: NR3C1 (Pimputed_1000G = 3.62 × 10-6) encoding the glucocorticoid receptor, and NREP (Pimputed_1000G = 3.67 × 10-6) encoding neuronal regeneration-related protein. Exome analysis showed: (i) association of severe OM with variants influencing protein coding (CADD-scaled ≥ 15) in a gene-set (GRXCR1, CDH23, LRP2, FAT4, ARSA, EYA4) enriched for Mammalian Phenotype Level 4 abnormal hair cell stereociliary bundle morphology and related phenotypes; (ii) rare variants influencing protein coding only seen in severe OM provided gene-sets enriched for "abnormal ear" (LMNA, CDH23, LRP2, MYO7A, FGFR1), integrin interactions, transforming growth factor signaling, and cell projection phenotypes including hair cell stereociliary bundles and cilium assembly. Conclusions: This study highlights interacting genes and pathways related to cilium structure and function that may contribute to extreme susceptibility to OM in Aboriginal Australian children.
MeSH term(s)	Australia/epidemiology ; Continental Population Groups ; Humans ; Otitis Media/genetics ; Phenotype ; Trans-Activators
Chemical Substances	EYA4 protein, human ; Trans-Activators
Language	English
Publishing date	2021-03-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1099781-7
ISSN	1537-6591 ; 1058-4838
ISSN (online)	1537-6591
ISSN	1058-4838
DOI	10.1093/cid/ciab216
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Article ; Online: Genetic and epigenetic susceptibility to early life infection.

Strunk, Tobias / Jamieson, Sarra E / Burgner, David

Current opinion in infectious diseases

2013 Volume 26, Issue 3, Page(s) 241–247

Abstract: Purpose of review: This review aims to interpret the current literature on the role of genetic and epigenetic factors in susceptibility to neonatal infection, a leading cause of early life mortality and morbidity.: Recent findings: Epidemiological ... ...

Abstract	Purpose of review: This review aims to interpret the current literature on the role of genetic and epigenetic factors in susceptibility to neonatal infection, a leading cause of early life mortality and morbidity. Recent findings: Epidemiological data indicate that the differential susceptibility to infection is partly heritable. To date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological shortcomings. Most studies predominantly focus on the innate immune system. There is growing interest in the potential role of epigenetic mechanisms in disease susceptibility and data are emerging on the role of epigenetics in the maturation of the immune system in early life. Summary: Infection is a leading cause of morbidity and mortality, especially in preterm infants, but it remains unclear why neonates are so susceptible or what mediates differential risk. Genetic and epigenetic epidemiologic studies may assist in the identification of critical protective and pathogenic pathways. Despite the current relative lack of robust data, such studies may facilitate the development of interventions that ultimately decrease the significant morbidity and mortality of this highly vulnerable population.
MeSH term(s)	Epigenomics ; Genetic Predisposition to Disease ; Humans ; Immunity, Innate/genetics ; Infant, Newborn ; Infection/genetics
Language	English
Publishing date	2013-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	645085-4
ISSN	1473-6527 ; 1535-3877 ; 0951-7375 ; 1355-834X
ISSN (online)	1473-6527 ; 1535-3877
ISSN	0951-7375 ; 1355-834X
DOI	10.1097/QCO.0b013e32835fb8d9
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