Mutations including the promoter region of myocilin/TIGR gene.
Mutations in the MYOC/TIGR gene are responsible for autosomal dominant primary open angle glaucoma (POAG). Almost all mutations responsible for POAG have been detected in the coding region (in particular at exon 3). By using the techniques of PCR, SSCP, automated sequencing and restriction analysis, we have studied 79 patients suffering from glaucoma. We have found five patients with sequence variants in the consensus region of the promoter. These sequence variants might be involved in the altered association between the consensus region and the corresponding transcription factor. This possibility might be favouring the association of other transcription factors, which would operate as activators or inhibitors of the transcription, altering the MYOC/TIGR expression.
Saura
Maria
M
1Area de Genética, Facultad de Ciencias, Lagoas-Marcosende 36200, Universidad de Vigo, Spain.
Cabana
Montse
M
Ayuso
Carmen
C
Valverde
Diana
D
D016384:Consensus Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics; D014129:Trabecular Meshwork; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin