T-box transcription factors contain a novel type of DNA-binding domain, the T-box domain, and are encoded by an ancient gene family. Four T-box genes, omb, Trg, org-1, and H15, have been identified in Drosophila, whereas in mammals the T-box gene family has expanded, and 12 human T-box genes have been isolated. We have identified a new human T-box gene, TBX20, and its mouse homologue Tbx20, which are more closely related to the Drosophila H15 gene than to any known vertebrate gene. H15 expression in leg imaginal discs correlates with commitment to a ventral fate, implicating this gene in early patterning events. We find that TBX20 is expressed in the fetal heart, eye, and limb, and during embryogenesis in the mouse, Tbx20 is expressed in the developing heart, eye, ventral neural tube, and limbs, indicating a possible role in regulating development of these tissues. The TBX20 gene maps to chromosome 7p14-p15. An association between TBX20 and loci for retinitis pigmentosa, RP9, and blepharophimosis syndrome, BPES, have been excluded.
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http://dx.doi.org/10.1006/geno.2000.6249 | DOI Listing |
Sci Rep
January 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China.
Amniotic fluid (AF)-derived exosomal miRNA have been explored as potential contributors to the pathogenesis of Tetralogy of Fallot (TOF). This study aimed to investigate the expression profiles of AF-derived exosomal miRNAs and their potential contribution to TOF development. Exosomes were isolated from AF samples obtained from pregnant women carrying fetuses diagnosed with TOF.
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January 2025
Department of Neurosurgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
Transcription factors (TFs), including steroidogenic factor-1 (SF-1), T-box transcription factor (TPIT) and pituitary transcription factor-1 (PIT-1), play a pivotal role in the cytodifferentiation of adenohypophysis. However, the impact of TFs on the growth patterns of nonfunctioning pituitary adenomas (NFPAs) remains unclear. This study aims to investigate the correlation between the expression of TFs and NFPAs growth patterns.
View Article and Find Full Text PDFInt J Biol Sci
January 2025
Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
Nat Commun
December 2024
Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the paraflocculus and flocculus, in mouse models and humans with 22q11.
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November 2024
GeneDx, LLC, Gaithersburg, MD, USA.
MGA (OMIM: 616061) encodes a dual-specificity transcription factor that regulates the expression of Max-network and T-box family target genes, important in embryogenesis. Previous studies have linked MGA to various phenotypes, including neurodevelopmental disorders, congenital heart disease, and early-onset Parkinson's disease. Here, we describe the clinical phenotype of individuals with de novo, heterozygous predicted loss-of-function variants in MGA, suggesting a unique disorder involving both neurodevelopmental and congenital anomalies.
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