ArticleDisease models & mechanisms
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
Article in Disease models & mechanisms. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 50 citations in OpenAlex.
- Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.International journal of molecular sciences · 2020Article
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.Frontiers in pediatrics · 2020Review
- Developmental Genes and Malformations in the Hypothalamus.Frontiers in neuroanatomy · 2020Review
- Article
- Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.Birth defects research · 2018Article
- Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors.Development (Cambridge, England) · 2017Article
- Molecular Analyses Reveal Inflammatory Mediators in the Solid Component and Cyst Fluid of Human Adamantinomatous Craniopharyngioma.Journal of neuropathology and experimental neurology · 2017Article
- MAPK pathway control of stem cell proliferation and differentiation in the embryonic pituitary provides insights into the pathogenesis of papillary craniopharyngioma.Development (Cambridge, England) · 2017Article
- Characterization of a novelClinical case reports · 2017Article
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
- HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.Clinical endocrinology · 2016Article
- SOX2 is sequentially required for progenitor proliferation and lineage specification in the developing pituitary.Development (Cambridge, England) · 2016Article
- Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Expression Analysis of the Hippo Cascade Indicates a Role in Pituitary Stem Cell Development.Frontiers in physiology · 2016Article
- Recent advances in central congenital hypothyroidism.The Journal of endocrinology · 2015Review
- Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease.Endocrinology · 2013Article
- SOX2 regulates the hypothalamic-pituitary axis at multiple levels.The Journal of clinical investigation · 2012Article
- HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrain.Development (Cambridge, England) · 2011Article
- The role of homeodomain transcription factors in heritable pituitary disease.Nature reviews. Endocrinology · 2011Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human patient, with no forebrain or eye defects. Two individuals carrying a homozygous substitution of the conserved arginine at position 160 by cysteine (R160C) manifest septo-optic dysplasia (SOD), a condition characterised by pituitary abnormalities associated with midline telencephalic structure defects and optic nerve hypoplasia. We have generated two knock-in mouse models containing either the I26T or R160C substitution in the genomic locus. Hesx1(I26T/I26T) embryos show pituitary defects comparable with Hesx1(-/-) mouse mutants, with frequent occurrence of ocular abnormalities, although the telencephalon develops normally. Hesx1(R160C/R160C) mutants display forebrain and pituitary defects that are identical to those observed in Hesx1(-/-) null mice. We also show that the expression pattern of HESX1 during early human development is very similar to that described in the mouse, suggesting that the function of HESX1 is conserved between the two species. Together, these results suggest that the I26T mutation yields a hypomorphic allele, whereas R160C produces a null allele and, consequently, a more severe phenotype in both mice and humans.
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