From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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
HEX1 and HESX1 marks the
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" .
^ Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. (1998). "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse". Nat. Genet . 19 (2): 125–33.
doi :
10.1038/477 .
PMID
9620767 .
S2CID
28880292 .
^ Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T (January 2011).
"Pituitary Stalk Interruption Syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms" . Eur J Endocrinol . 164 (4): 457–65.
doi :
10.1530/EJE-10-0892 .
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.
doi :
10.1210/me.2008-0359 .
PMC
2852357 .
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.
doi :
10.1159/000074245 .
PMID
14646405 .
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.
doi :
10.1074/jbc.M109.012054 .
PMC
2749150 .
PMID
19561080 .
Dattani MT, Robinson IC (2002). "HESX1 and Septo-Optic Dysplasia". Rev Endocr Metab Disord . 3 (4): 289–300.
doi :
10.1023/A:1020945406356 .
PMID
12424431 .
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.
doi :
10.1172/JCI18589 .
PMC
213489 .
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.
doi :
10.1210/jc.2008-1189 .
PMC
2582563 .
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.
doi :
10.1159/000091033 .
PMID
16424673 .
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.
doi :
10.1210/jc.2010-0150 .
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.
doi :
10.1210/jc.2002-021868 .
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.
doi :
10.1210/jc.2006-0426 .
PMID
16940453 .
Dasen JS, Rosenfeld MG (2001). "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci . 24 : 327–55.
doi :
10.1146/annurev.neuro.24.1.327 .
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.
doi :
10.1210/jc.2002-020818 .
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.
doi :
10.1101/gr.2596504 .
PMC
528928 .
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.
doi :
10.1002/ajmg.a.33684 .
PMC
2965295 .
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.
doi :
10.1016/j.bbamcr.2007.08.010 .
PMC
2233781 .
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.
doi :
10.1210/jc.2006-1609 .
PMID
17148560 .
Kelberman D, Dattani MT (2007). "Genetics of septo-optic dysplasia". Pituitary . 10 (4): 393–407.
doi :
10.1007/s11102-007-0055-5 .
PMID
17587179 .
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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
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.
doi :
10.1016/j.cell.2010.01.044 .
PMC
2836267 .
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.
doi :
10.1515/jpem.2003.16.9.1207 .
PMID
14714741 .
S2CID
45542882 .
External links
(1) Basic domains
(1.1) Basic
leucine zipper (
bZIP )(1.2) Basic helix-loop-helix (
bHLH )
Group A Group B Group C bHLH-
PAS Group D Group E Group F bHLH-COE
(1.3)
bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2)
Zinc finger DNA-binding domains
(2.1)
Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors