Mutations causing defective splicing in the human hprt gene

1992 ◽  
Vol 20 (2) ◽  
pp. 89-95 ◽  
Author(s):  
Björn Andersson ◽  
Sai-Mei Hou ◽  
Bo Lambert
Keyword(s):  
Hprt Gene ◽  
Human Hprt Gene

Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element

1991 ◽  
Vol 11 (8) ◽  
pp. 4157-4164
Author(s):  
D E Rincón-Limas ◽  
D A Krueger ◽  
P I Patel
Keyword(s):  
Regulatory Element ◽  
Genomic Structure ◽  
Functional Characterization ◽  
Translation Initiation Site ◽  
Hypoxanthine Phosphoribosyltransferase ◽  
Hprt Gene ◽  
Negative Element ◽  
Cis Acting ◽  
Human Hprt Gene

The enzyme hypoxanthine phosphoribosyltransferase (HPRT) catalyzes the metabolic salvage of the purine bases hypoxanthine and guanine. We previously characterized the genomic structure of the human HPRT gene and described its promoter sequence. In this report, we identify cis-acting transcriptional control regions of the human HPRT gene by linking various 5'-flanking sequences to the bacterial chloramphenicol acetyltransferase gene. The sequence from positions -219 to -122 relative to the translation initiation site is required for maximal expression of this gene, and it functions equally in both normal and reverse orientations. In addition, a cis-acting negative element is present in the region spanning from positions -570 to -388. This negative element can also repress promoters of heterologous genes, such as those of adenosine deaminase and dihydrofolate reductase, which are structurally and functionally similar to the human HPRT promoter. Furthermore, this repressor element functions independently of its orientation but appears to be distance dependent. In vivo competition assays demonstrated that the trans-acting factor(s) that binds to this negative element specifically inhibits human HPRT promoter activity. Taken together, these data localize cis-acting sequences important in the regulation of human HPRT gene expression and should allow the study of protein-DNA interactions which modulate the transcription of this gene.

scholarly journals Databases and software for the analysis of mutations in the human p53 gene, the human hprt gene and both the lacI and lacZ gene in transgenic rodents

1997 ◽  
Vol 25 (1) ◽  
pp. 136-137 ◽  
Author(s):  
N. F. Cariello ◽  
G. R. Douglas ◽  
M. J. Dycaico ◽  
N. J. Gorelick ◽  
G. S. Provost ◽  
...  
Keyword(s):  
P53 Gene ◽  
Lacz Gene ◽  
Hprt Gene ◽  
Human Hprt Gene

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum

1998 ◽  
Vol 411 (3) ◽  
pp. 179-214 ◽  
Author(s):  
J.Patrick O'Neill ◽  
Peter K Rogan ◽  
Neal Cariello ◽  
Janice A Nicklas
Keyword(s):  
Rna Splicing ◽  
Hprt Gene ◽  
Human Hprt Gene

scholarly journals Analysis of Mutations in the Human HPRT Gene Induced by Accelerated Heavy-Ion Irradiation.

1995 ◽  
Vol 36 (3) ◽  
pp. 185-195 ◽  
Author(s):  
YASUHIRO KAGAWA ◽  
FUMIO YATAGAI ◽  
MASAO SUZUKI ◽  
YOUKO KASE ◽  
AKIKO KOBAYASHI ◽  
...  
Keyword(s):  
Ion Irradiation ◽  
Heavy Ion ◽  
Hprt Gene ◽  
Heavy Ion Irradiation ◽  
Human Hprt Gene

Novel Mutations in the Human HPRT Gene

2011 ◽  
Vol 30 (6) ◽  
pp. 440-445 ◽  
Author(s):  
Khue Vu Nguyen ◽  
Robert K. Naviaux ◽  
Kacie K. Paik ◽  
William L. Nyhan
Keyword(s):  
Hprt Gene ◽  
Novel Mutations ◽  
Human Hprt Gene
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