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Article ; Online: The homeobox gene TGIF1 is required for chicken ovarian cortical development and generation of the juxtacortical medulla.

Estermann, Martin Andres / Hirst, Claire Elizabeth / Major, Andrew Thomas / Smith, Craig Allen

2021 Volume 148, Issue 16

Abstract: During early embryogenesis in amniotic vertebrates, the gonads differentiate into either ovaries or testes. The first cell lineage to differentiate gives rise to the supporting cells: Sertoli cells in males and pre-granulosa cells in females. These key ... ...

Abstract	During early embryogenesis in amniotic vertebrates, the gonads differentiate into either ovaries or testes. The first cell lineage to differentiate gives rise to the supporting cells: Sertoli cells in males and pre-granulosa cells in females. These key cell types direct the differentiation of the other cell types in the gonad, including steroidogenic cells. The gonadal surface epithelium and the interstitial cell populations are less well studied, and little is known about their sexual differentiation programs. Here, we show the requirement of the homeobox transcription factor gene TGIF1 for ovarian development in the chicken embryo. TGIF1 is expressed in the two principal ovarian somatic cell populations: the cortex and the pre-granulosa cells of the medulla. TGIF1 expression is associated with an ovarian phenotype in estrogen-mediated sex reversal experiments. Targeted misexpression and gene knockdown indicate that TGIF1 is required, but not sufficient, for proper ovarian cortex formation. In addition, TGIF1 is identified as the first known regulator of juxtacortical medulla development. These findings provide new insights into chicken ovarian differentiation and development, specifically cortical and juxtacortical medulla formation.
MeSH term(s)	Animals ; Cell Differentiation ; Cell Lineage/genetics ; Chick Embryo ; Chickens/genetics ; Embryo, Mammalian/metabolism ; Female ; Gene Expression Regulation, Developmental ; Gene Knockdown Techniques ; Genes, Homeobox ; Gonads/metabolism ; Homeodomain Proteins/genetics ; Homeodomain Proteins/metabolism ; Male ; Ovary/cytology ; Ovary/embryology ; Ovary/metabolism ; Repressor Proteins/genetics ; Repressor Proteins/metabolism ; Sertoli Cells/metabolism ; Sex Determination Processes/genetics ; Sex Differentiation/genetics ; Testis/metabolism
Chemical Substances	Homeodomain Proteins ; Repressor Proteins
Language	English
Publishing date	2021-08-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	90607-4
ISSN	1477-9129 ; 0950-1991
ISSN (online)	1477-9129
ISSN	0950-1991
DOI	10.1242/dev.199646
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Article: Sporadic Creutzfeldt-Jakob disease presenting as a stroke mimic590.

Hirst, Claire L

British journal of hospital medicine (London, England : 2005)

2011 Volume 72, Issue 10, Page(s) 590–591

Abstract: Creutzfeldt-Jakob disease is a rare neurodegenerative disease in which there is an abnormal accumulation of prion protein. It occurs with an incidence of approximately 1 per million per year. Sporadic Creutzfeldt-Jakob disease occurs in approximately 85% ...

Abstract	Creutzfeldt-Jakob disease is a rare neurodegenerative disease in which there is an abnormal accumulation of prion protein. It occurs with an incidence of approximately 1 per million per year. Sporadic Creutzfeldt-Jakob disease occurs in approximately 85% of cases, with familial, variant and iatrogenic forms less common. Typically sporadic Creutzfeldt-Jakob disease presents with a rapidly progressive dementia, but sub-variants include the Heidenhain and Oppenheimer-Brownell variants. The former presents with visual disturbance and the latter with ataxia. This article describes a 75-year-old man with a Heidenhain variant of sporadic Creutzfeldt-Jakob disease who presented with a sudden onset of homonymous hemianopia mimicking a stroke.
MeSH term(s)	Aged ; Creutzfeldt-Jakob Syndrome/diagnosis ; Diagnosis, Differential ; Disease Progression ; Fatal Outcome ; Female ; Humans ; Stroke/diagnosis
Language	English
Publishing date	2011-11-01
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1750-8460
ISSN	1750-8460
DOI	10.12968/hmed.2011.72.10.590
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Article ; Online: Sex determination and gonadal sex differentiation in the chicken model.

Hirst, Claire E / Major, Andrew T / Smith, Craig A

The International journal of developmental biology

2018 Volume 62, Issue 1-2-3, Page(s) 153–166

Abstract: Our understanding of avian sex determination and gonadal development is derived primarily from the studies in the chicken. Analysis of gynandromorphic chickens and experimental chimeras indicate that sexual phenotype is at least partly cell autonomous in ...

Abstract	Our understanding of avian sex determination and gonadal development is derived primarily from the studies in the chicken. Analysis of gynandromorphic chickens and experimental chimeras indicate that sexual phenotype is at least partly cell autonomous in the chicken, with sexually dimorphic gene expression occurring in different tissue and different stages. Gonadal sex differentiation is just one of the many manifestations of sexual phenotype. As in other birds, the chicken has a ZZ male: ZW female sex chromosome system, in which the male is the homogametic sex. Most evidence favours a Z chromosome dosage mechanism underling chicken sex determination, with little evidence of a role for the W chromosome. Indeed, the W appears to harbour a small number of genes that are un-related to sexual development, but have been retained because they are dosage sensitive factors. As global Z dosage compensation is absent in birds, Z-linked genes may direct sexual development in different tissues (males having on average 1.5 to 2 times the expression level of females). In the embryonic gonads, the Z-linked DMRT1 gene plays a key role in testis development. Beyond the gonads, other combinations of Z-linked genes may govern sexual development, together with a role for sex steroid hormones. Gonadal DMRT1 is thought to activate other players in testis development, namely SOX9 and AMH, and the recently identified HEMGN gene. DMRT1 also represses ovarian pathway genes, such as FOXL2 and CYP19A1. A lower level of DMRT1 expression in the female gonads is compatible with activation of the ovarian pathway. Some outstanding questions include how the key testis and ovary genes, DMRT1 and FOXL2, are regulated. In addition, confirmation of the central role of these genes awaits genome editing approaches.
MeSH term(s)	Animals ; Aromatase/metabolism ; Cell Differentiation ; Chick Embryo ; Chickens ; Dosage Compensation, Genetic ; Female ; Gene Dosage ; Gene Expression Regulation, Developmental ; Genome ; Gonads/embryology ; Male ; Ovary/embryology ; SOX9 Transcription Factor/metabolism ; Sex Chromosomes ; Sex Determination Processes ; Sex Differentiation/genetics ; Testis/embryology
Chemical Substances	SOX9 Transcription Factor ; Aromatase (EC 1.14.14.1)
Language	English
Publishing date	2018-04-04
Publishing country	Spain
Document type	Journal Article ; Review
ZDB-ID	1036070-0
ISSN	1696-3547 ; 0214-6282
ISSN (online)	1696-3547
ISSN	0214-6282
DOI	10.1387/ijdb.170319cs
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Article: The avian embryo as a model system for skeletal myogenesis.

Hirst, Claire E / Marcelle, Christophe

Results and problems in cell differentiation

2015 Volume 56, Page(s) 99–122

Abstract: This review will focus on the use of the chicken and quail as model systems to analyze myogenesis and as such will emphasize the experimental approaches that are strongest in these systems-the amenability of the avian embryo to manipulation and in ovo ... ...

Abstract	This review will focus on the use of the chicken and quail as model systems to analyze myogenesis and as such will emphasize the experimental approaches that are strongest in these systems-the amenability of the avian embryo to manipulation and in ovo observation. During somite differentiation, a wide spectrum of developmental processes occur such as cellular differentiation, migration, and fusion. Cell lineage studies combined with recent advancements in cell imaging allow these biological phenomena to be readily observed and hypotheses tested extremely rapidly-a strength that is restricted to the avian system. A clear weakness of the chicken in the past has been genetic approaches to modulate gene function. Recent advances in the electroporation of expression vectors, siRNA constructs, and use of tissue specific reporters have opened the door to increasingly sophisticated experiments that address questions of interest not only to the somite/muscle field in particular but also fundamental to biology in general. Importantly, an ever-growing body of evidence indicates that somite differentiation in birds is indistinguishable to that of mammals; therefore, these avian studies complement the complex genetic models of the mouse.
MeSH term(s)	Animals ; Cell Differentiation/genetics ; Cell Lineage/genetics ; Chick Embryo ; Gene Expression Regulation, Developmental ; Mice ; Models, Biological ; Muscle Development/genetics ; Quail/growth & development ; Somites/growth & development
Language	English
Publishing date	2015
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ISSN	0080-1844
ISSN	0080-1844
DOI	10.1007/978-3-662-44608-9_5
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Article ; Online: Prion-like domains drive CIZ1 assembly formation at the inactive X chromosome.

Sofi, Sajad / Williamson, Louisa / Turvey, Gabrielle L / Scoynes, Charlotte / Hirst, Claire / Godwin, Jonathan / Brockdorff, Neil / Ainscough, Justin / Coverley, Dawn

The Journal of cell biology

2022 Volume 221, Issue 4

Abstract: CIZ1 forms large assemblies at the inactive X chromosome (Xi) in female fibroblasts in an Xist lncRNA-dependent manner and is required for accurate maintenance of polycomb targets genome-wide. Here we address requirements for assembly formation and show ... ...

Abstract	CIZ1 forms large assemblies at the inactive X chromosome (Xi) in female fibroblasts in an Xist lncRNA-dependent manner and is required for accurate maintenance of polycomb targets genome-wide. Here we address requirements for assembly formation and show that CIZ1 undergoes two direct interactions with Xist, via independent N- and C-terminal domains. Interaction with Xist, assembly at Xi, and complexity of self-assemblies formed in vitro are modulated by two alternatively spliced glutamine-rich prion-like domains (PLD1 and 2). PLD2 is dispensable for accumulation at existing CIZ1-Xi assemblies in wild-type cells but is required in CIZ1-null cells where targeting, assembly, and enrichment for H3K27me3 and H2AK119ub occur de novo. In contrast, PLD1 is required for both de novo assembly and accumulation at preexisting assemblies and, in vitro, drives formation of a stable fibrillar network. Together they impart affinity for RNA and a complex relationship with repeat E of Xist. These data show that alternative splicing of two PLDs modulates CIZ1's ability to build large RNA-protein assemblies.
MeSH term(s)	Alternative Splicing ; Animals ; Female ; Fibroblasts ; Histones ; Mice ; Nuclear Proteins/genetics ; Prions ; RNA, Long Noncoding/genetics ; X Chromosome/genetics ; X Chromosome Inactivation/genetics
Chemical Substances	Ciz1 protein, mouse ; Histones ; Nuclear Proteins ; Prions ; RNA, Long Noncoding ; XIST non-coding RNA
Language	English
Publishing date	2022-03-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	218154-x
ISSN	1540-8140 ; 0021-9525
ISSN (online)	1540-8140
ISSN	0021-9525
DOI	10.1083/jcb.202103185
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Article: Iatrogenic Creutzfeldt-Jakob disease presenting 24 years after human growth hormone administration.

Hirst, Claire

British journal of hospital medicine (London, England : 2005)

2005 Volume 66, Issue 10, Page(s) 592–593

MeSH term(s)	Adult ; Creutzfeldt-Jakob Syndrome/chemically induced ; Female ; Human Growth Hormone/adverse effects ; Humans
Chemical Substances	Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2005-10
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ISSN	1750-8460
ISSN	1750-8460
DOI	10.12968/hmed.2005.66.10.19901
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Article ; Online: There is no such thing as a mild MS relapse. The mild relapse is an Anglo-Saxon delusion - No.

Hirst, Claire L / Robertson, Neil P

Multiple sclerosis (Houndmills, Basingstoke, England)

2012 Volume 18, Issue 7, Page(s) 925–926

MeSH term(s)	Humans ; Multiple Sclerosis, Relapsing-Remitting ; Recurrence
Language	English
Publishing date	2012-07
Publishing country	England
Document type	Journal Article
ZDB-ID	1290669-4
ISSN	1477-0970 ; 1352-4585
ISSN (online)	1477-0970
ISSN	1352-4585
DOI	10.1177/1352458512450089
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Article ; Online: Cytoplasmic NOTCH and membrane-derived β-catenin link cell fate choice to epithelial-mesenchymal transition during myogenesis.

Sieiro, Daniel / Rios, Anne C / Hirst, Claire E / Marcelle, Christophe

eLife

2016 Volume 5

Abstract: How cells in the embryo coordinate epithelial plasticity with cell fate decision in a fast changing cellular environment is largely unknown. In chick embryos, skeletal muscle formation is initiated by migrating Delta1-expressing neural crest cells that ... ...

Abstract	How cells in the embryo coordinate epithelial plasticity with cell fate decision in a fast changing cellular environment is largely unknown. In chick embryos, skeletal muscle formation is initiated by migrating Delta1-expressing neural crest cells that trigger NOTCH signaling and myogenesis in selected epithelial somite progenitor cells, which rapidly translocate into the nascent muscle to differentiate. Here, we uncovered at the heart of this response a signaling module encompassing NOTCH, GSK-3β, SNAI1 and β-catenin. Independent of its transcriptional function, NOTCH profoundly inhibits GSK-3β activity. As a result SNAI1 is stabilized, triggering an epithelial to mesenchymal transition. This allows the recruitment of β-catenin from the membrane, which acts as a transcriptional co-factor to activate myogenesis, independently of WNT ligand. Our results intimately associate the initiation of myogenesis to a change in cell adhesion and may reveal a general principle for coupling cell fate changes to EMT in many developmental and pathological processes.
Language	English
Publishing date	2016-05-24
Publishing country	England
Document type	Journal Article
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.14847
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Article ; Online: Adhesion G-protein-coupled receptor, GPR56, is required for Müllerian duct development in the chick.

Roly, Zahida Yesmin / Major, Andrew T / Fulcher, Alex / Estermann, Martin A / Hirst, Claire E / Smith, Craig A

The Journal of endocrinology

2019 Volume 244, Issue 2, Page(s) 395–413

Abstract: The embryonic Müllerian ducts give rise to the female reproductive tract (fallopian tubes, uterus and upper vagina in humans, the oviducts in birds). Embryonic Müllerian ducts initially develop in both sexes, but later regress in males under the ... ...

Abstract	The embryonic Müllerian ducts give rise to the female reproductive tract (fallopian tubes, uterus and upper vagina in humans, the oviducts in birds). Embryonic Müllerian ducts initially develop in both sexes, but later regress in males under the influence of anti-Müllerian hormone. While the molecular and endocrine control of duct regression in males have been well studied, early development of the ducts in both sexes is less well understood. Here, we describe a novel role for the adhesion G protein-coupled receptor, GPR56, in development of the Müllerian ducts in the chicken embryo. GPR56 is expressed in the ducts of both sexes from early stages. The mRNA is present during the elongation phase of duct formation, and it is restricted to the inner Müllerian duct epithelium. The putative ligand, Collagen III, is abundantly expressed in the Müllerian duct at the same developmental stages. Knockdown of GPR56 expression using in ovo electroporation results in variably truncated ducts, with a loss of expression of both epithelial and mesenchymal markers of duct development. Over-expression of GPR56 in vitro results in enhanced cell proliferation and cell migration. These results show that GPR56 plays an essential role in avian Müllerian duct development through the regulation of duct elongation.
MeSH term(s)	Animals ; Avian Proteins/genetics ; Avian Proteins/metabolism ; Cell Proliferation ; Chick Embryo ; Chickens/genetics ; Chickens/growth & development ; Chickens/metabolism ; Female ; Gene Expression Regulation, Developmental ; Male ; Mullerian Ducts/embryology ; Mullerian Ducts/metabolism ; Receptors, G-Protein-Coupled/genetics ; Receptors, G-Protein-Coupled/metabolism
Chemical Substances	Avian Proteins ; Receptors, G-Protein-Coupled
Language	English
Publishing date	2019-12-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3028-4
ISSN	1479-6805 ; 0022-0795
ISSN (online)	1479-6805
ISSN	0022-0795
DOI	10.1530/JOE-19-0419
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Article ; Online: Acute myeloid leucaemia presenting as a rapidly progressive polyradiculoneuropathy.

Hirst, Claire L / Willis, Mark / Hussain, Hussain / Powell, Rob

BMJ case reports

2015 Volume 2015

Abstract: Neurological involvement at onset in acute myeloid leucaemia (AML) is rare, with only a few isolated case reports. We present the case of a 46-year-old man with rapidly progressive polyradiculoneuropathy as the presenting feature of AML. The proposed ... ...

Abstract	Neurological involvement at onset in acute myeloid leucaemia (AML) is rare, with only a few isolated case reports. We present the case of a 46-year-old man with rapidly progressive polyradiculoneuropathy as the presenting feature of AML. The proposed mechanism for this is postulated to be direct intraneural infiltration, although a paraneoplastic, autoimmune-related phenomenon could be possible. Despite chemotherapeutic intervention, the patient died 1 month after initial presentation. Although rare, neurological manifestations of AML do occur and it is important to include haematological malignancies in the differential diagnosis in patients presenting with neurological symptoms.
MeSH term(s)	Fatal Outcome ; Humans ; Leukemia, Myeloid, Acute/complications ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/drug therapy ; Male ; Middle Aged ; Polyradiculoneuropathy/etiology
Language	English
Publishing date	2015-11-18
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2015-209556
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