TY - JOUR
T1 - Identification of factors regulating the expression of the human glucocerebrosidase gene
AU - Moran, Dan
AU - Galperin, Emilia
AU - Horowitz, Mia
N1 - Funding Information:
We are grateful to Prof. Yossi Shaul of the Weizmann Institute and to Dr Yehudit Bergman of Hadassah Medical School for their advice, help and encouragement. This project was supported by a grant from the Israeli Ministry of Health to M.H.
PY - 1997/7/31
Y1 - 1997/7/31
N2 - Gaucher disease, the most prevalent sphingolipid disorder, is characterized by an accumulation of sphingolipids mainly in cells of the reticuloendothelial cells, and is due to decreased activity of the lysosomal enzyme glucocerebrosidase (GCase). The corresponding gene is expressed differentially, namely in different cell types there are different GCase steady-state mRNA levels. Electrophoretic mobility shift assays, DNase footprinting and chloramphenicol acetyl transferase assays were employed in order to unravel some of the transcription factors responsible for the differential expression of the glucocerebrosidase (gcs) gene. The results indicate that OCTA binding protein, AP-1, PEA3 and a CAAT binding protein participate in regulating the expression of the gcs gene. The availability of the transcription factors seems to control the level of transcription of the gcs gene.
AB - Gaucher disease, the most prevalent sphingolipid disorder, is characterized by an accumulation of sphingolipids mainly in cells of the reticuloendothelial cells, and is due to decreased activity of the lysosomal enzyme glucocerebrosidase (GCase). The corresponding gene is expressed differentially, namely in different cell types there are different GCase steady-state mRNA levels. Electrophoretic mobility shift assays, DNase footprinting and chloramphenicol acetyl transferase assays were employed in order to unravel some of the transcription factors responsible for the differential expression of the glucocerebrosidase (gcs) gene. The results indicate that OCTA binding protein, AP-1, PEA3 and a CAAT binding protein participate in regulating the expression of the gcs gene. The availability of the transcription factors seems to control the level of transcription of the gcs gene.
KW - Gaucher disease
KW - Promoter
KW - Transcription factors
UR - http://www.scopus.com/inward/record.url?scp=0030738892&partnerID=8YFLogxK
U2 - 10.1016/S0378-1119(97)00148-0
DO - 10.1016/S0378-1119(97)00148-0
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C2 - 9272862
AN - SCOPUS:0030738892
SN - 0378-1119
VL - 194
SP - 201
EP - 213
JO - Gene
JF - Gene
IS - 2
ER -