Paired box gene

Mutations in paired box genes of mouse and humans have now been shown to cause interesting developmental abnormalities. The classical mutation undulated in mouse was found to be the result of an alteration... 

T. (1992). Waardenburg s syndrome patients have mutations in the human homo-logue of the Pax-3 paired box gene. Nature 355 635-636. 

Muratovska A, Zhou C, He S, et al. Paired-box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene. 2003 22 7989-7997. 

Krauss, S., Johansen, T, Korzh, V., and Fjose, A. (1991) Expression of the zebrafish paired box gene pax [zf-b] during early neurogenesis. Development 113,1193-1206. 

Kozmik, Z., Holland, N.D., Kalousova, A., Paces, J., Schubert, M. and Holland, L.Z. (1999) Characterization of an amphioxus paired box gene, AmphiPax2l5l8 developmental expression patterns in optic support cells, nephridium, thyroid-like structures and pharyngeal gill slits, but not in the midbrain-hindbrain boundary region . Development, 126, 1295-304. 

The paired box is another sequence motif that is very well conserved during evolution and is found in a number of genes known to be of developmental significance in lower organisms. The paired box encodes the 128-amino acid paired domain, which binds DNA(Chalapakis et al., 1991), and shows similarity, with a helix-tum-helix motif, to the homeodomain. 

The genes with paired boxes often, but not always, have homeoboxes as well. The homeoboxes that are associated with paired boxes have distinctive sequence characteristics that set them apart as a separate homeobox subfamily. Interestingly, these paired-type homeoboxes in mouse can sometimes reside on genes such as the K-2 (MHox) and S-8 paired-type homeobox genes, which have not been found to carry paired boxes. 

Deutsch, U., Dressier, G. R., and Grass, P. (1988). Pax-1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development. Cell 53 617-625. 

Martin, J.F., Bradley, A., Olson, E.N. 1995. The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages. Genes Dev. 9, 1237-1249. 

Dressier GR, Deutsch U, Chowdhury K, Nomes HO, Gruss P. 1990. Pax2, a new murine paired-box-containing gene and its... 

The three class I ADH promoters are very similar. Prominent among the ds-act-ing elements that contribute to promoter function are the TATA box, a pair of C/ EBP sites (that can also be bound by DBP) flanking the TATA box, an E-box sequence (CACGTG) just upstream at which USF can bind, and a G3T sequence (that binds Spl) one helical turn further upstream from the E-box [28, 29]. Further upstream are CTF/NF-1 and HNF-1 sites, and some elements that are specific to only some of these genes [24]. Differences among the class I genes in these and other sites affect the tissue distribution and amount of expression. Sequence differences among individuals could well affect the level and site(s) of expression, and thereby the effects of alcohol. 

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