PubMed:10023043 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10023043-1#0#3#gene2068","span":{"begin":83,"end":86},"obj":"gene2068"},{"id":"10023043-1#120#125#gene2068","span":{"begin":203,"end":208},"obj":"gene2068"},{"id":"10023043-1#120#125#gene2071","span":{"begin":203,"end":208},"obj":"gene2071"},{"id":"10023043-1#59#62#gene2071","span":{"begin":142,"end":145},"obj":"gene2071"},{"id":"10023043-1#67#70#gene2068","span":{"begin":150,"end":153},"obj":"gene2068"},{"id":"10023043-1#240#252#diseaseC0263490","span":{"begin":323,"end":335},"obj":"diseaseC0263490"}],"relations":[{"id":"0#3#gene2068240#252#diseaseC0263490","pred":"associated_with","subj":"10023043-1#0#3#gene2068","obj":"10023043-1#240#252#diseaseC0263490"},{"id":"120#125#gene2068240#252#diseaseC0263490","pred":"associated_with","subj":"10023043-1#120#125#gene2068","obj":"10023043-1#240#252#diseaseC0263490"},{"id":"120#125#gene2071240#252#diseaseC0263490","pred":"associated_with","subj":"10023043-1#120#125#gene2071","obj":"10023043-1#240#252#diseaseC0263490"},{"id":"59#62#gene2071240#252#diseaseC0263490","pred":"associated_with","subj":"10023043-1#59#62#gene2071","obj":"10023043-1#240#252#diseaseC0263490"},{"id":"67#70#gene2068240#252#diseaseC0263490","pred":"associated_with","subj":"10023043-1#67#70#gene2068","obj":"10023043-1#240#252#diseaseC0263490"}],"text":"Genomic organization and promoter characterization of two human UHS keratin genes.\nTTD is a rare human genetic disease caused by mutations in XPB and XPD, two subunits of the transcription/repair factor TFIIH, and whose outstanding clinical characteristic is a lack of most human UHS proteins resulting in sulfur-deficient brittle hair. In an attempt to understand this transcription defect, we report here the genomic cloning of two highly related UHS keratin genes specifically expressed in follicular and epidermal cells. In addition to a high degree of nucleotide homology (87%), both genes also have a similar 90-nt promoter sequence. In-vivo and in-vitro studies allowed us to specify the position of the start sites, the TATA-boxes and some regulatory regions. Results indicate that both genes present common features in the regulation of their transcription and suggest that control of their expression might be affected by mutations in TFIIH subunits."}

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{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":323,"end":335},"obj":"HP_0002299"}],"text":"Genomic organization and promoter characterization of two human UHS keratin genes.\nTTD is a rare human genetic disease caused by mutations in XPB and XPD, two subunits of the transcription/repair factor TFIIH, and whose outstanding clinical characteristic is a lack of most human UHS proteins resulting in sulfur-deficient brittle hair. In an attempt to understand this transcription defect, we report here the genomic cloning of two highly related UHS keratin genes specifically expressed in follicular and epidermal cells. In addition to a high degree of nucleotide homology (87%), both genes also have a similar 90-nt promoter sequence. In-vivo and in-vitro studies allowed us to specify the position of the start sites, the TATA-boxes and some regulatory regions. Results indicate that both genes present common features in the regulation of their transcription and suggest that control of their expression might be affected by mutations in TFIIH subunits."}

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