exon 24 (G→C) aa 1417 (Cysa→Arg) 2nd transmembrane; C-terminal NBF TD7 homozygote nt 1730 (A→G) aa 537 (Glna→Arg) 1st transmembrane TD822 homozygote nt 1764 del (G) frameshift (aa 575→stop) all TD9 homozygote nt 1524-37 ins/del (110 bp Alu-sq) aa 468 (38 aa ins/6 ...
The Evolutionarily Conserved Cassette Exon 7b Drives ERG's Oncogenic Properties The oncogene ERG encodes an ETS family transcription factor and is implicated in blood, vascular, and bone development and in prostate, blood, and bone cancer. The ERG gene is alternatively spliced; of particular interest...
Subsequently, Flp-RMCE was used to exchange the hygtk cassette by an LPR cassette with modified exon–cDNA sequences. In order to leave several options, the donor plasmid co-introduced a floxed neor cassette, which could later be removed by the action of Cre. Pilot experiments demonstrated ...
Therefore, we manually corrected the predicted exon/intron boundaries for some GLEAN models. The subfamily assignment of Tribolium ABC proteins was confirmed by blastp analyses at the NCBI webserver (http://www.ncbi.nlm.nih.gov/blast). This procedure allowed unequivocal assignment of Tribolium ABC...
oligo (dT)20 primers for reverse transcription in 20 μ l reactions To confirm exon/intron boundaries and start/stop codons of O. melastigma ABC transporter genes, genomic structures of the obtained genes were compared between genomic clones and the transcripts for each gene. Some ...
The exon/intron boundary and start/stop codons of each ABC gene were confirm from the genome and transcriptome. The conserved domains of these identi- fied ABC proteins were predicted using SMART (simple modular architecture research tool, http://smart.embl- heidelberg.de/) [95] and confirmed ...
EMBO J 10:1355–1363 Chu C-S, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmem- brane conductance regulator mRNA. Nat Genet 3:151–156 Cole SPC, Bhardwaj G, Gerlach JH, Mackie JE, Grant CE, Almquist KC, ...
The D487_F489 deletion in exon 8 and Y329fs in exon 6 are relatively frequent mutations of the CYP17A1 gene in China that completely abolish the enzyme activity of P450c17. However, little remains known about steroid biosynthetic functions in carriers with these mutations in a single allele ...
However, a heterozygous amino acid exchange (Arg406Gln) in exon 9 of ABCG5 was revealed, which was inherited from his mother. Although not sufficient evidence exists to regard this sequence variation as a mutation, this previously unreleased sequence variation occurred in a "hot spot" area for...
The spliceosome assembles de novo on each pre-mRNA substrate in a stepwise manner, is then catalytically activated, carries out two transesterification reactions that lead to intron excision and exon ligation, and is finally disassembled in an ordered manner (20). The transitions between the ...