Functional analysis of the promoters of the human red and green visual pigment genes.

摘要: PURPOSE. To delineate cis-acting DNA elements involved in the expression of human red and green visual pigment genes to correlate these with transcription factor binding sites. METHODS. Assays promoter activity were accomplished by transient transfection into WERI cells. Nested deletion block mutagenesis undertaken critical elements. Transcription sites determined DNase I footprinting electrophoretic mobility shift (EMSA) analyses. RESULTS. The retinoblastoma cell line WERI, but not Y-79, was found express genes. Transfection assays cells revealed that proximal region gene had positive (- 130 -113 - 96 23) negative 190 96) regulatory be 2 4 times more active than pigment. This difference attributable mainly a T C substitution at position -3. protection EMSA studies demonstrated several ubiquitous WERI-enriched proteins sequences between -130 TATA box. locus control (I.CR) did have any enhancer transfection. CONCLUSIONS. is good model system for analysis cone cell-specific fashion seems controlled positive-acting higher could evolved compensate its longer distance from activating LCR (approximately 34 versus 3.5 kb). Although does enhance transfection, it binds factors also recognize region. These interactions may important establishment transcriptionally domain chromatin context.