MSX1

From Wikipedia, the free encyclopedia


Msh homeobox 1
PDB rendering based on 1ig7.
Available structures: 1ig7
Identifiers
Symbol(s) MSX1; HOX7; HYD1
External IDs OMIM: 142983 MGI: 97168 HomoloGene: 1836
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 4487 17701
Ensembl ENSG00000163132 ENSMUSG00000048450
Uniprot P28360 Q91W75
Refseq NM_002448 (mRNA)
NP_002439 (protein)		 NM_010835 (mRNA)
NP_034965 (protein)
Location Chr 4: 4.91 - 4.92 Mb Chr 5: 38.11 - 38.11 Mb
Pubmed search [1] [2]

Msh homeobox 1, also known as MSX1, is a human gene.

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomal dominant hypodontia.[1]

[edit] References

  1. ^ Entrez Gene: MSX1 msh homeobox 1.

[edit] Further reading

  • Mostowska A, Kobielak A, Trzeciak WH (2003). "Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition.". Eur. J. Oral Sci. 111 (5): 365–70. PMID 12974677. 
  • Padanilam BJ, Stadler HS, Mills KA, et al. (1993). "Characterization of the human HOX 7 cDNA and identification of polymorphic markers.". Hum. Mol. Genet. 1 (6): 407–10. PMID 1284527. 
  • Hewitt JE, Clark LN, Ivens A, Williamson R (1992). "Structure and sequence of the human homeobox gene HOX7.". Genomics 11 (3): 670–8. PMID 1685479. 
  • Ivens A, Flavin N, Williamson R, et al. (1990). "The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome.". Hum. Genet. 84 (5): 473–6. PMID 1969845. 
  • McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes.". Genomics 7 (3): 460. PMID 1973146. 
  • Robert B, Sassoon D, Jacq B, et al. (1989). "Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis.". EMBO J. 8 (1): 91–100. PMID 2565810. 
  • Vastardis H, Karimbux N, Guthua SW, et al. (1996). "A human MSX1 homeodomain missense mutation causes selective tooth agenesis.". Nat. Genet. 13 (4): 417–21. doi:10.1038/ng0896-417. PMID 8696335. 
  • Zhang H, Catron KM, Abate-Shen C (1996). "A role for the Msx-1 homeodomain in transcriptional regulation: residues in the N-terminal arm mediate TATA binding protein interaction and transcriptional repression.". Proc. Natl. Acad. Sci. U.S.A. 93 (5): 1764–9. PMID 8700832. 
  • Zhang H, Hu G, Wang H, et al. (1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism.". Mol. Cell. Biol. 17 (5): 2920–32. PMID 9111364. 
  • Sarapura VD, Strouth HL, Gordon DF, et al. (1997). "Msx1 is present in thyrotropic cells and binds to a consensus site on the glycoprotein hormone alpha-subunit promoter.". Mol. Endocrinol. 11 (12): 1782–94. PMID 9369446. 
  • Bendall AJ, Rincón-Limas DE, Botas J, Abate-Shen C (1998). "Protein complex formation between Msx1 and Lhx2 homeoproteins is incompatible with DNA binding activity.". Differentiation 63 (3): 151–7. PMID 9697309. 
  • Shetty S, Takahashi T, Matsui H, et al. (1999). "Transcriptional autorepression of Msx1 gene is mediated by interactions of Msx1 protein with a multi-protein transcriptional complex containing TATA-binding protein, Sp1 and cAMP-response-element-binding protein-binding protein (CBP/p300).". Biochem. J. 339 ( Pt 3): 751–8. PMID 10215616. 
  • Bendall AJ, Ding J, Hu G, et al. (1999). "Msx1 antagonizes the myogenic activity of Pax3 in migrating limb muscle precursors.". Development 126 (22): 4965–76. PMID 10529415. 
  • van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK (2000). "MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.". Nat. Genet. 24 (4): 342–3. doi:10.1038/74155. PMID 10742093. 
  • Benzing T, Yaffe MB, Arnould T, et al. (2000). "14-3-3 interacts with regulator of G protein signaling proteins and modulates their activity.". J. Biol. Chem. 275 (36): 28167–72. doi:10.1074/jbc.M002905200. PMID 10862767. 
  • Mehra-Chaudhary R, Matsui H, Raghow R (2001). "Msx3 protein recruits histone deacetylase to down-regulate the Msx1 promoter.". Biochem. J. 353 (Pt 1): 13–22. PMID 11115394. 
  • Jumlongras D, Bei M, Stimson JM, et al. (2001). "A nonsense mutation in MSX1 causes Witkop syndrome.". Am. J. Hum. Genet. 69 (1): 67–74. PMID 11369996. 
  • Blin-Wakkach C, Lezot F, Ghoul-Mazgar S, et al. (2001). "Endogenous Msx1 antisense transcript: in vivo and in vitro evidences, structure, and potential involvement in skeleton development in mammals.". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7336–41. doi:10.1073/pnas.131497098. PMID 11390985. 
  • Lidral AC, Reising BC (2002). "The role of MSX1 in human tooth agenesis.". J. Dent. Res. 81 (4): 274–8. PMID 12097313. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. 

[edit] External links


 This article on a gene on chromosome 4 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD