| 词条 | TBX1 |
| 释义 |
T-box transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene.[1] Genes in the T-box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development.[2] To carry out these roles, proteins made by this gene family bind to specific areas of DNA called T-box binding element (TBE)[2] to control the expression of target genes. GeneThe TBX1 gene is located on the long (q) arm of chromosome 22 at position 11.21, from base pair 18,118,779 to base pair 18,145,669.[1] FunctionThe T-box 1 protein appears to be necessary for the normal development of large arteries that carry blood out of the heart, muscles and bones of the face and neck, and glands such as the thymus and parathyroid.[3][4] Although the T-box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein. Clinical significanceMost cases of 22q11.2 deletion syndrome are caused by the deletion of a small piece of chromosome 22. This region of the chromosome contains about 30 genes, including the TBX1 gene. In a small number of affected individuals without a chromosome 22 deletion, mutations in the TBX1 gene are thought to be responsible for the characteristic signs and symptoms of the syndrome. Of the three known mutations, two mutations change one amino acid (a building block of proteins) in the T-box 1 protein. The third mutation deletes a single amino acid from the protein. These mutations likely disrupt the ability of the T-box 1 protein to bind to DNA and regulate the activity of other genes.[5][6][7] Loss of the TBX1 gene, due to either a mutation in the gene or a deletion of part of chromosome 22, is responsible for many of the features of 22q11.2 deletion syndrome. Specifically, a loss of the TBX1 gene is associated with heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels, but does not appear to cause learning disabilities.[8][9] References1. ^1 {{cite web | title = Entrez Gene: T-box 1 | url = https://www.ncbi.nlm.nih.gov/gene/6899 }} 2. ^1 {{cite journal | vauthors = Bollag RJ, Siegfried Z, Cebra-Thomas JA, Garvey N, Davison EM, Silver LM | title = An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus | language = en | journal = Nature Genetics | volume = 7 | issue = 3 | pages = 383–9 | date = July 1994 | pmid = 7920656 | doi = 10.1038/ng0794-383 }} 3. ^{{cite journal | vauthors = Jerome LA, Papaioannou VE | title = DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 | journal = Nature Genetics | volume = 27 | issue = 3 | pages = 286–91 | date = March 2001 | pmid = 11242110 | doi = 10.1038/85845 }} 4. ^{{cite journal | vauthors = Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A | title = Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice | journal = Nature | volume = 410 | issue = 6824 | pages = 97–101 | date = March 2001 | pmid = 11242049 | doi = 10.1038/35065105 }} 5. ^{{cite journal | vauthors = Baldini A | title = DiGeorge's syndrome: a gene at last | journal = Lancet | volume = 362 | issue = 9393 | pages = 1342–3 | date = October 2003 | pmid = 14585631 | doi = 10.1016/S0140-6736(03)14671-5 }} 6. ^{{cite journal | vauthors = Baldini A | title = DiGeorge syndrome: an update | journal = Current Opinion in Cardiology | volume = 19 | issue = 3 | pages = 201–4 | date = May 2004 | pmid = 15096950 | doi = 10.1097/00001573-200405000-00002 }} 7. ^{{cite journal | vauthors = Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R | title = Role of TBX1 in human del22q11.2 syndrome | journal = Lancet | volume = 362 | issue = 9393 | pages = 1366–73 | date = October 2003 | pmid = 14585638 | doi = 10.1016/S0140-6736(03)14632-6 }} 8. ^{{cite journal | vauthors = Packham EA, Brook JD | title = T-box genes in human disorders | journal = Human Molecular Genetics | volume = 12 Spec No 1 | issue = Spec No 1 | pages = R37-44 | date = April 2003 | pmid = 12668595 | doi = 10.1093/hmg/ddg077 | series = 12 }} 9. ^{{cite journal | vauthors = Yamagishi H, Srivastava D | title = Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome | journal = Trends in Molecular Medicine | volume = 9 | issue = 9 | pages = 383–9 | date = September 2003 | pmid = 13129704 | doi = 10.1016/S1471-4914(03)00141-2 }} Further reading{{refbegin}}
External links
1 : Transcription factors |
| 随便看 |
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。