In an effort to elucidate the mechanisms that regulate cardiac and smooth muscle genes, scientists performed a BLAST search to look for potential cardiac-specific genes that may be involved in regulation.

Discovery of myocardin

Proteins that assist in the activation of genes involved in muscle formation and function

SRF doesn ot appear to function only in the muscles, so it likely relies on the recruitment of myogenic accessroy factors to accomblish gene activation.

SRF binds to the serum response element (SRE) in the promoter region of target genes.

When certain cells are stimulated by growth factors or mitogens, some of their genes get turned on temporarily. These genes are generally regulated by a region called the serum response element (SRE).

Mitogen = A mitogen is a small bioactive protein or peptide that induces a cell to begin cell division, or enhances the rate of division (mitosis).

1 of the 20 new, previously unidentified sequences matched with a region of the gene MYOCD known as the 3' untranslated region (UTR)

BLAST (Basic Local Alignment Search Tool): * Compares sequences of nucleotides or proteins to find similarities * Wang et. al. compared sequences derived from RNA (expressed sequence tags) obtained from libraries of embryonic cardiac muscle cells with sequences already known and recorded in databases

Transcriptomics: * Techniques used to study an organism's transcriptome, the sum of all of its RNA transcripts. * Can provide insight into gene expression.

individuals who inherit only one mutated copy of the gene (heterozygotes) typically have around a 50% deficiency in the corresponding enzyme. However, this level of deficiency is usually not enough to cause the disease.

Individuals who were homozygous recessive would have the disease.