HESX1
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.[5]
Expression of
anterior visceral endoderm
of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.
Clinical significance
Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia[6] or Pickardt-Fahlbusch syndrome.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000163666 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040726 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: HESX homeobox 1".
- S2CID 28880292.
- PMID 21270112.
Further reading
- Carvalho LR, Brinkmeier ML, Castinetti F, et al. (2010). "Corepressors TLE1 and TLE3 interact with HESX1 and PROP1". Mol. Endocrinol. 24 (4): 754–65. PMID 20181723.
- Kim SS, Kim Y, Shin YL, et al. (2003). "Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging". Horm. Res. 60 (6): 277–83. S2CID 31256955.
- Torrado M, Revuelta J, Gonzalez C, et al. (2009). "Role of conserved salt bridges in homeodomain stability and DNA binding". J. Biol. Chem. 284 (35): 23765–79. PMID 19561080.
- Dattani MT, Robinson IC (2002). "HESX1 and Septo-Optic Dysplasia". Rev Endocr Metab Disord. 3 (4): 289–300. S2CID 26948906.
- Carvalho LR, Woods KS, Mendonca BB, et al. (2003). "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction" (PDF). J. Clin. Invest. 112 (8): 1192–201. PMID 14561704.
- Diaczok D, Romero C, Zunich J, et al. (2008). "A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 93 (11): 4351–9. PMID 18728160.
- Fintini D, Salvatori R, Salemi S, et al. (2006). "Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene". Horm. Res. 65 (2): 76–82. S2CID 29894981.
- Dateki S, Fukami M, Uematsu A, et al. (2010). "Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion". J. Clin. Endocrinol. Metab. 95 (8): 4043–7. PMID 20534763.
- Cohen RN, Cohen LE, Botero D, et al. (2003). "Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia". J. Clin. Endocrinol. Metab. 88 (10): 4832–9. PMID 14557462.
- Sobrier ML, Maghnie M, Vié-Luton MP, et al. (2006). "Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities". J. Clin. Endocrinol. Metab. 91 (11): 4528–36. PMID 16940453.
- Dasen JS, Rosenfeld MG (2001). "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci. 24: 327–55. PMID 11283314.
- Tajima T, Hattorri T, Nakajima T, et al. (2003). "Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient". J. Clin. Endocrinol. Metab. 88 (1): 45–50. PMID 12519827.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Mellado C, Poduri A, Gleason D, et al. (2010). "Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort". Am. J. Med. Genet. A. 152A (11): 2736–42. PMID 20949537.
- Sajedi E, Gaston-Massuet C, Andoniadou CL, et al. (2008). "DNMT1 interacts with the developmental transcriptional repressor HESX1". Biochim. Biophys. Acta. 1783 (1): 131–43. PMID 17931718.
- McNay DE, Turton JP, Kelberman D, et al. (2007). "HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism". J. Clin. Endocrinol. Metab. 92 (2): 691–7. PMID 17148560.
- Kelberman D, Dattani MT (2007). "Genetics of septo-optic dysplasia". Pituitary. 10 (4): 393–407. S2CID 25143489.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Ravasi T, Suzuki H, Cannistraci CV, et al. (2010). "An atlas of combinatorial transcriptional regulation in mouse and man". Cell. 140 (5): 744–52. PMID 20211142.
- Dattani MT (2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. S2CID 45542882.
External links
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
- HESX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)