Singh KK, Elligsen D, Liersch R, Schubert S, Pabst B, Arslan-Kirchner M, Schmidtke J. Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. J Mol Cell Cardiol. 2007;42(2):352-6....
We report here the largest known de novo and out of frame deletion in the fibrillin-1 gene in a patient fulfilling the diagnostic criteria of Marfan syndrome. We identified the deletion breakpoints at the genomic and transcript levels and studied the expression of the mutated allele at the ...
Close examination of the cathepsin L mRNA showed three additional AUG codons between the conventional start codon M1 and the possible downstream in-frame start codons (Fig. 1a). However, usage of these AUGs would lie outside the regular open-reading frame. These alternative AUGs, further termed...
Previous work indicates that sex-specific splicing of tra transcripts only leads to the production of functional TraF protein in XX cells7. Therefore, we introduced Gal4 in-frame just before the stop codon in the endogenous tra locus (Fig. 1d). The resulting allele, traF-Gal4, only produces...
In order to address the role of DNMT1 during cerebellar development, we conditionally ablated Dnmt1 in GCNPs in vivo using the Cre/loxP system under the control of a Math1 promoter [41], resulting in an out-of-frame splice from exon 3 to exon 6 of Dnmt1, leading to a truncated mRNA...
We describe a case of female Becker muscular dystrophy with 45,X/46,X,r(X), carrying an out-of-frame deletion in a nonhot-spot region of the DMD gene. Multiplex polymerase chain reaction did not detect the deletion, because the deleted exons 31-42 comprise a nonhot-spot region, and ...
Exon 3 was the first exon that met all these criteria. Several methods exist for introducing foreign genetic material into cells, with electroporation being one such approach16. In this study, we examined the editing efficiency of human immortalized skin keratinocytes (N/TERT-2G) by electropo...
Generation of dyrk1aa KO zebrafish We identified the zebrafish dyrk1aa gene and its exon/ intron boundaries by searching the Ensembl database (GRCz10 Ensembl gene ID: ENSDARG00000063570; transcript ID: ENSDART00000100073). The dyrk1aa (7 bp deletion) KO fish was generated using TALEN, as ...
functioning, but silently targeted, allele. A gene with twoloxPsites in place, waiting to be recombined to delete an exon, is said to befloxed. A floxed gene can be disrupted, or “turned off,” by later expressing the second recombinase (e.g., Cre) in the mouse. The power of ...
For the original Wnt11 null allele (Majumdar et al., 2003), exons 4 and 5 were deleted, resulting in a stable, but nonfunctional transcript containing the signal peptide sequence and an out of frame sequence downstream of exon 3. However, deletion of exon 4 alone results in a frame ...