scholarly journals PITX2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Pitx2 Gene

scholarly journals Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Guillaume de la Houssaye ◽  
Ivan Bieche ◽  
Olivier Roche ◽  
Véronique Vieira ◽  
Ingrid Laurendeau ◽  
...  
Keyword(s):  
Case Report ◽  
Rieger Syndrome ◽  
Intragenic Deletion ◽  
Pitx2 Gene

Localization of the PITX2 gene expression in human eye cells in the course of prenatal development

2008 ◽  
Vol 35 (2) ◽  
pp. 113-120 ◽  
Author(s):  
Yu. V. Markitantova ◽  
N. V. Firsova ◽  
Yu. A. Smirnova ◽  
I. G. Panova ◽  
G. T. Sukhikh ◽  
...  
Keyword(s):  
Gene Expression ◽  
Prenatal Development ◽  
Human Eye ◽  
Pitx2 Gene

Abstract 18782: Regional Action Potential Heterogeneity in the Murine Pitx2c Deficient Left Atrium

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Andrew P Holmes ◽  
Ting Yu ◽  
Fahima Syeda ◽  
Nigel A Brown ◽  
Larissa Fabritz ◽  
...  
Keyword(s):  
Action Potential ◽  
Left Atrium ◽  
Lateral Wall ◽  
Interatrial Septum ◽  
The Other ◽  
Wild Type ◽  
Genetic Abnormalities ◽  
Mapping System ◽  
Pitx2 Gene ◽  
Partial Depletion

Introduction and hypothesis: Genetic abnormalities close to the Pitx2 gene correlate more strongly with atrial fibrillation (AF) than any other genetic modification. It is known that Pitx2c mRNA is expressed in the adult left atrium (LA), but its relevance for the electrical integrity of cardiomyocytes throughout the atria remains unresolved. We therefore compared regional action potential (AP) morphology in PITX2c +/- and wild type (WT) littermate mice. Methods: Transmembrane (T) and optical (O) APs were recorded from superfused intact, isolated LA paced at 100ms. TAPs were recorded from three distinct regions on the LA epicardium: 1) the junction with the interatrial septum (S), 2) the medial muscular dome (M) and 3) the lateral wall (L). OAPs were recorded using a custom murine atrial optical mapping system using the Hamamatsu ORCA flash 4 and Di-4-Anepps. Results: OAPs were shorter in Pitx2c deficient LA (AP duration (APD70); WT 13±2ms, n=4 LA vs Pitx2c +/- 9±1ms, n=4 LA, all data as mean±SEM, p<0.05). Simultaneous recordings of OAPs from multiple LA regions showed an AP gradient with longer OAPs at the septum than at the lateral wall, in both genotypes. In WT LA, TAPs were longer and of greater amplitude at the septum than in the other two regions (APD90; S 26±1ms, M 19±1mV and L 19±1ms, APA; S 81±1mV, M 76±2mV and L 76±2mV, n=6 LA, p<0.05). In Pitx2c +/- , TAPs were shorter than WT in all three regions tested and exhibited the same regional patterning (S 20±1ms, M 15±1ms and L 16±1, n=7 LA, p<0.05). The regional AP amplitude gradient was not apparent, or at least shifted more towards the lateral wall, in PITX2c +/- atria (APA; S 77±2mV, M 76±3mV and L 74±2mV, n=7 LA, ns). Conclusion: Partial depletion in Pitx2c mRNA expression causes a uniform APD shortening throughout the LA and loss of regional changes in AP amplitude. Identification of the targets downstream of Pitx2 accounting for these changes will help to better understand the mechanisms conveying AF due to reduced Pitx2 function.

scholarly journals Expression Analysis of the PITX2 Gene and Associations between Its Polymorphisms and Body Size and Carcass Traits in Chickens

Animals ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. 1001 ◽  
Author(s):  
Haiyue Cao ◽  
Xinyang Dong ◽  
Haiguang Mao ◽  
Ningying Xu ◽  
Zhaozheng Yin
Keyword(s):  
Body Size ◽  
Expression Analysis ◽  
Myogenic Differentiation ◽  
Carcass Traits ◽  
The Body ◽  
Expression Level ◽  
Potential Candidate ◽  
Pitx2 Gene ◽  
Leg Muscle ◽  
Wuliang Mountain

PITX2 is expressed in and plays an important role in myocytes of mice, and it has effects on late myogenic differentiation in chickens. However, the expression profile and polymorphisms of PITX2 remain unclear in chickens. Therefore, the aim of the present study was to detect its expression and investigate single nucleotide polymorphisms (SNPs) within its exons and then to evaluate whether these polymorphisms affect body size as well as carcass traits in chickens. The expression analysis showed that the expression level of chicken PITX2 mRNA in the leg muscle and hypophysis was significantly higher (p < 0.01) than those in other tissues. The results of polymorphisms analysis identified two SNPs (i.e., g.9830C > T and g.10073C > T) in exon 1 and 10 SNPs (i.e., g.12713C > T, g.12755C > T, g.12938G > A, g. 3164C > T, g.13019G > A, g.13079G > A, g.13285G > A, g.13335G > A, g.13726A > G and g.13856C > T) in exon 3, including four novel SNPs (i.e., g.9830C > T, g.12713C > T, g.12938G > A and g.13856C > T). In the loci of g.10073C > T and g.12713C > T, chickens with the CT genotype had the highest (p < 0.05 or p < 0.01) breast depth and breast angle, respectively. For the locus of g.13335G > A, chickens with the GG genotype had the highest (p < 0.05 or p < 0.01) breast angle and shank circumference. For the locus of g.13726A > G, chickens with the GG genotype had the highest breast width, fossil keel bone length and shank circumference. The locus of g.12713A > G had significant effects on the PITX2 mRNA expression level in leg muscle. The H1H7 diplotype showed the highest shank circumference, and the H2H8 diplotype showed the highest breast muscle rate. The present research suggested that polymorphisms of the exons of the PITX2 gene were significantly associated with the body size and carcass traits of Wuliang Mountain Black-bone chickens and the PITX2 gene could be a potential candidate gene for molecular marker-aided selection in Wuliang Mountain Black-bone chickens and other chicken breeds.

scholarly journals Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Liqin Huang ◽  
Yong Meng ◽  
Xiangming Guo
Keyword(s):  
Genomic Dna ◽  
Anterior Segment ◽  
Dominant Negative ◽  
Chinese Patients ◽  
Dominant Negative Effect ◽  
Sequencing Analysis ◽  
Coding Region ◽  
Direct Dna Sequencing ◽  
Rieger Syndrome ◽  
Pitx2 Gene

Purpose. The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. Methods. Twenty-six unrelated patients with different forms of ASD were enrolled from our paediatric and genetic eye clinic. The ocular manifestations of both eyes of each patient were recorded. Genomic DNA was prepared from venous leukocytes. All coding exons of PITX2 and FOXC1 were amplified by polymerase chain reaction (PCR) from genomic DNA and subjected to direct DNA sequencing. Analysis of mutations in control subjects was performed by heteroduplex single-strand conformation polymorphism (SSCP) analysis. Results. Sequence analysis of the PITX2 gene revealed four mutations, including c.475_476delCT (P.L159VfsX39), c.64C > T (P.Q22X), c.296delG (P.R99PfsX56), and c.206G > A (P.R69H). The first three mutations were found to be novel. The c.475_476delCT (P.L159VfsX39) mutation, located at the 3′ end of the PITX2-coding region, was identified in a Chinese Axenfeld-Rieger syndrome (ARS) patient who presented with an unusual severe phenotype of bilateral aniridia. The clinical characteristics, including the severity and manifestations of the patient’s phenotype, were compared with reported PITX2-associated aniridia phenotypes of ARS in the literature. Conclusions. These results expand the mutation spectrum of the PITX2 gene in patients with ARS. The PITX2 gene may be responsible for a significant portion of ARS with additional systemic defects in the Chinese population. This is the first reported case of a mutation at the 3′ end of the PITX2-coding region extending the phenotypic consequences to bilateral aniridia. The traits of ARS could display tremendous variability in severity and manifestations due to the dominant-negative effect of PITX2. Our results further emphasize the importance of careful clinical and genetic analysis in determining mutation-disease associations and may lead to a better understanding of the role of PITX2 in ocular development.

scholarly journals The asymmetric Pitx2 gene regulates gut muscular-lacteal development and protects against fatty liver disease

Cell Reports ◽  
2021 ◽  
Vol 37 (8) ◽  
pp. 110030
Author(s):  
Shing Hu ◽  
Aparna Mahadevan ◽  
Isaac F. Elysee ◽  
Joseph Choi ◽  
Nathan R. Souchet ◽  
...  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Pitx2 Gene

scholarly journals Identification of Atrial Fibrillation Risk Variant RS2200733 In Indian Young Adult Population

2021 ◽  
Author(s):  
Aarthi Manoharan ◽  
Ravikumar Sambandam ◽  
Vithiavathi Sathish ◽  
Vishnu Bhat
Keyword(s):  
Atrial Fibrillation ◽  
Indian Population ◽  
Adult Population ◽  
Structure And Function ◽  
Cardiac Structure ◽  
Risk Variant ◽  
Pitx2 Gene ◽  
Young Adult Population ◽  
Cardiac Structure And Function ◽  
And Function

Abstract Atrial fibrillation (AF) is a common cardiac arrhythmia that affects millions of people. a substantial genetic contribution to AF has been identified by number of studies over the years. The SNP that is often linked with genetic predisposition to AF is rs2200733 located in the intergenic region close to PITX2 gene which is implicated in cardiac structure and function. rs2200733 is commonly observed in major global populations. Our study aimed to establish the prevalence of this important SNP among young healthy adults in order to assess the risk of genetic susceptibility which could culminate into AF later in life. The study identified a substantial frequency of rs2200733 in Indian population at 21%.

Cardiac looping and laterality

2018 ◽  
Author(s):  
Marina Campione ◽  
Amelia Aranega ◽  
Diego Franco
Keyword(s):  
Current Data ◽  
Cardiac Looping ◽  
Downstream Target ◽  
Morphological Asymmetry ◽  
Proper Form ◽  
Signalling Molecule ◽  
Pitx2 Gene ◽  
Homeobox Transcription Factor ◽  
And Function

Dextral looping is a complex process which progresses concomitantly with cardiac chamber differentiation and ultimately leads to the final alignment of the cardiac regions. Generation of cardiac asymmetry is crucial to ensure the proper form and consequent function of the heart and thus is a highly regulated process. Molecular signals originate long before morphological asymmetry and therefore can direct it; a complex regulatory network has been characterized which invariably converges on the Tgf-β‎ signalling molecule Nodal and its downstream target, the homeobox transcription factor Pitx2. We review current data regarding the cellular and molecular bases of cardiac looping and laterality, and describe current understaning of the role of Nodal and Pitx2. The morphogenetic role of the Pitx2 gene and its modulation of transcription and function, which have recently linked laterality to atrial fibrillation, are emphasized.

Effects of genetic variations within goat PITX2 gene on growth traits and mRNA expression

2019 ◽  
Vol 31 (2) ◽  
pp. 107-114 ◽  
Author(s):  
Sihuan Zhang ◽  
Haiyu Zhao ◽  
Chuzhao Lei ◽  
Chuanying Pan ◽  
Hong Chen ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Growth Traits ◽  
Genetic Variations ◽  
Pitx2 Gene

Correlation of PITX2 gene expression and invasive potential of breast cancer cells.

2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 10646-10646
Author(s):  
R. Aft ◽  
S. Pillai ◽  
N. Dasgupta ◽  
T. Fleming ◽  
M. Watson
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Cancer Cells ◽  
Breast Cancer Cells ◽  
Invasive Potential ◽  
Pitx2 Gene
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