ArticleThe Journal of clinical investigation2010
Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2.
Article in The Journal of clinical investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 125 citations in OpenAlex.
- Article
- Generation of parathyroid glands from pluripotent stem cells.Endocrine journal · 2025Review
- Article
- Characterisation of Kürsteiner canals of parathyroid: imparting relevance to a one-and-a-quarter-century-old concept.Histopathology · 2025Article
- Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene.Frontiers in endocrinology · 2025Article
- A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.Endocrine journal · 2024Review
- KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma.Clinical and translational medicine · 2024Article
- GATA3 functions downstream of BRCA1 to promote DNA damage repair and suppress dedifferentiation in breast cancer.BMC biology · 2024Article
- Epigenetic profiling reveals key genes and cis-regulatory networks specific to human parathyroids.Nature communications · 2024Article
- Performance in Behavioral Testing in an Animal Model of Post-Surgical Hypoparathyroidism.Journal of personalized medicine · 2024Article
- Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.Journal of endocrinological investigation · 2024Article
- Shared features in ear and kidney development - implications for oto-renal syndromes.Disease models & mechanisms · 2024Article
- Generation and molecular characterization of human pluripotent stem cell-derived pharyngeal foregut endoderm.Developmental cell · 2023Article
- Cellular and molecular mechanisms of the organogenesis and development, and function of the mammalian parathyroid gland.Cell and tissue research · 2023Review
- Hypoparathyroidism in children and adolescents.Annals of pediatric endocrinology & metabolism · 2023Article
- Limits to in vivo fate changes of epithelia in thymus and parathyroid by ectopic expression of transcription factors Gcm2 and Foxn1.Scientific reports · 2022Article
- The pseudobranch of jawed vertebrates is a mandibular arch-derived gill.Development (Cambridge, England) · 2022Article
- Loss of function of GATA3 induces basal-like mammary tumors.Theranostics · 2022Article
- Transcriptional and epigenetic regulation in thymic epithelial cells.Immunological reviews · 2022Review
- GATA3 maintains the quiescent state of cochlear supporting cells by regulating p27Scientific reports · 2021Article
Corrections and comments
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Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
Heterozygous mutations of GATA3, which encodes a dual zinc-finger transcription factor, cause hypoparathyroidism with sensorineural deafness and renal dysplasia. Here, we have investigated the role of GATA3 in parathyroid function by challenging Gata3+/- mice with a diet low in calcium and vitamin D so as to expose any defects in parathyroid function. This led to a higher mortality among Gata3+/- mice compared with Gata3+/+ mice. Compared with their wild-type littermates, Gata3+/- mice had lower plasma concentrations of calcium and parathyroid hormone (PTH) and smaller parathyroid glands with a reduced Ki-67 proliferation rate. At E11.5, Gata3+/- embryos had smaller parathyroid-thymus primordia with fewer cells expressing the parathyroid-specific gene glial cells missing 2 (Gcm2), the homolog of human GCMB. In contrast, E11.5 Gata3-/- embryos had no Gcm2 expression and by E12.5 had gross defects in the third and fourth pharyngeal pouches, including absent parathyroid-thymus primordia. Electrophoretic mobility shift, luciferase reporter, and chromatin immunoprecipitation assays showed that GATA3 binds specifically to a functional double-GATA motif within the GCMB promoter. Thus, GATA3 is critical for the differentiation and survival of parathyroid progenitor cells and, with GCM2/B, forms part of a transcriptional cascade in parathyroid development and function.
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Registered trials
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