TBX22

From Wikipedia, the free encyclopedia

T-box 22

Identifiers

TBX22; CLPA; TBXX; dJ795G23.1

External IDs

OMIM: 300307 MGI: 2389465 HomoloGene: 9666

Gene ontology
Molecular Function:	• transcription factor activity
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent • multicellular organismal development

Orthologs

Human

Mouse

Refseq

NM_016954 (mRNA)
NP_058650 (protein)

NM_145224 (mRNA)
NP_660259 (protein)

Location

Chr X: 79.16 - 79.17 Mb

Chr X: 103.87 - 103.89 Mb

Pubmed search

[1]

[2]

T-box 22, also known as TBX22, is a human gene.^[1]

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis.^[1]

[edit] References

^ ^a ^b Entrez Gene: TBX22 T-box 22.

[edit] Further reading

Laugier-Anfossi F, Villard L (2000). "Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain.". Gene 255 (2): 289-96. PMID 11024289.
Braybrook C, Doudney K, Marçano AC, et al. (2001). "The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.". Nat. Genet. 29 (2): 179-83. doi:10.1038/ng730. PMID 11559848.
Aldred MA (2002). "Cleft lip and palate: new genetic clues.". Trends in molecular medicine 7 (12): 539-40. PMID 11733204.
Braybrook C, Lisgo S, Doudney K, et al. (2003). "Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.". Hum. Mol. Genet. 11 (22): 2793-804. PMID 12374769.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Marçano AC, Doudney K, Braybrook C, et al. (2004). "TBX22 mutations are a frequent cause of cleft palate.". J. Med. Genet. 41 (1): 68-74. PMID 14729838.
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. PMID 15489334.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325-37. doi:10.1038/nature03440. PMID 15772651.
Andreou AM, Pauws E, Jones MC, et al. (2007). "TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.". Am. J. Hum. Genet. 81 (4): 700-12. doi:10.1086/521033. PMID 17846996.
Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V (2008). "TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.". Clin. Genet. 72 (5): 478-83. doi:10.1111/j.1399-0004.2007.00891.x. PMID 17868388.