Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3′ splice acceptor site of intron 2

2018 ◽  
Vol 59 (5) ◽  
pp. 152-161
Author(s):  
Rabia Afzal ◽  
Sabika Firasat ◽  
Haiba Kaul ◽  
Bashir Ahmed ◽  
Sorath N. Siddiqui ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Congenital Glaucoma ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Primary Congenital Glaucoma ◽  
Causative Variant ◽  
Cyp1b1 Gene ◽  
Intron 2

scholarly journals Splice-acceptor site mutation in p53 gene of hu888 zebrafish line

2014 ◽  
Vol 56 (1) ◽  
pp. 115-121 ◽  
Author(s):  
Alicja Piasecka ◽  
Paweł Brzuzan ◽  
Maciej Woźny ◽  
Sławomir Ciesielski ◽  
Dariusz Kaczmarczyk
Keyword(s):  
P53 Gene ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Splice Acceptor ◽  
Site Mutation ◽  
Splice Acceptor Site Mutation

scholarly journals Procyclic acidic repetitive protein (PARP) genes located in an unusually small alpha-amanitin-resistant transcription unit: PARP promoter activity assayed by transient DNA transfection of Trypanosoma brucei.

1990 ◽  
Vol 10 (7) ◽  
pp. 3492-3504 ◽  
Author(s):  
G Rudenko ◽  
S Le Blancq ◽  
J Smith ◽  
M G Lee ◽  
A Rattray ◽  
...  
Keyword(s):  
Trypanosoma Brucei ◽  
Transcription Unit ◽  
Splice Acceptor Site ◽  
Acceptor Site ◽  
Nucleotide Position ◽  
Splice Acceptor ◽  
Transcription Analysis ◽  
Alpha Amanitin ◽  
Single Promoter ◽  
Repetitive Protein

At least one of the procyclic acidic repetitive protein (PARP or procyclin) loci of Trypanosoma brucei is a small (5- to 6-kilobase) polycistronic transcription unit which is transcribed in an alpha-amanitin-resistant manner. Its single promoter, as mapped by run-on transcription analysis and UV inactivation of transcription, is located immediately upstream of the first alpha-PARP gene. Transcription termination occurs in a region approximately 3 kilobases downstream of the beta-PARP gene. The location of the promoter was confirmed by its ability to direct transcription of the bacterial chloramphenicol acetyltransferase gene in insect-form (procyclic) T. brucei. The putative PARP promoter is located in the region between the 3' splice acceptor site (nucleotide position 0) and nucleotide position -196 upstream of the alpha-PARP genes. Regulatory regions influencing the levels of PARP expression may be located further upstream. We conclude that a single promoter, which is located very close to the 3' splice acceptor site of the alpha-PARP genes, directs the transcription of a small, polycistronic, and alpha-amanitin-resistant transcription unit.

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