Cloning and functional analysis of the Sry-related HMG box gene, Sox18.

摘要: The Sox gene family ( S ry like HMG b ox gene) is characterised by a conserved DNA sequence encoding domain of approximately 80 amino acids which responsible for specific binding. We initially published the identification and partial cDNA murine Sox18, new member this family, isolated from cardiac library. This allowed us to classify Sox18 into F sub-group proteins, along with Sox7 Sox17. Recently, we demonstrated that mutations in activation underlie cardiovascular hair follicle defects mouse mutation, ragged (Ra) (Pennisi et al., 2000. Mutations defecs mice. Nat. Genet. 24, 434–437). Ra homozygotes lack vibrissae coat hairs, have generalised oedema an accumulation chyle peritoneum. Here investigated genomic sequences Sox18. Screening phage library identified four overlapping clones, sequenced 3.25 kb XbaI fragment defined entire coding region 1.5 5′ flanking sequences. (i) additional 91 upstream previously designated methionine start codon original cDNA, (ii) intron encoded within box/DNA binding exactly same position as found Sox5, -13 -17 genes. encodes protein 468 aa. present evidence suggests HAF-2, human HMG-box activating factor -2 protein, orthologue HAF-2 has been implicated regulation Human IgH enhancer B cell context. Random mutagenesis coupled GAL4 hybrid analysis between 252 346, phosphorylation motif, SARS, acid residues 313 346 critical components mediated transactivation. Finally, examined expression multiple adult tissues using RT-PCR. Low-moderate was observed spleen, stomach, kidney, intestine, skeletal muscle heart. Very abundant detected lung tissue.