Journal: medRxiv
Article Title: GIPC1 intermediate-length repeat expansion in amyotrophic lateral sclerosis
doi: 10.1101/2025.05.22.25328088
Figure Lengend Snippet: (A) The CGG repeat is located within exon 1 of GIPC1 . Primers and probes for repeat-primed PCR (RP-PCR, green), fragment analysis (blue), and RNA fluorescence in situ hybridization (FISH, red) were designed within or adjacent to the repeat region. (B) The left panel shows the results for RP-PCR, in which abnormal CGG repeat expansions were detected in the upper three cases. The middle panel displays the results of fragment analysis. The right panel presents histograms of repeat sizes estimated from long-read sequencing data using NanoRepeat; orange bars indicate expanded alleles. (C) Histogram of CGG repeat sizes determined through fragment analysis. The lower graph shows an enlarged view of the low-frequency range. In the control group, most alleles contained 32 or fewer repeats. Two control samples exhibited abnormally expanded alleles, whereas four ALS samples harbored alleles with 33 or more repeats.
Article Snippet: Immunoreaction product deposits on immunohistochemically stained sections were visualized using a Histofine Simple Stain MAX-PO MULTI (Nichirei Biosciences, Tokyo, Japan), 3,3′-diaminobenzidine (Nichirei Biosciences), and primary antibodies against phosphorylated TDP-43 (phospho Ser409/410) (clone 11-9, mouse monoclonal, dilution 1:5000, Cosmo Bio Co Ltd, Tokyo, Japan), p62 (clone 3/P62 LCK LIGAND, mouse monoclonal, dilution 1:300, BD Biosciences, San Jose, CA), GIPC1 (rabbit polyclonal, dilution 1:200, Proteintech Group, Chicago, IL), and GIPC1 (clone BG-12, mouse monoclonal, dilution 1:200, Santa Cruz Biotechnologies, Santa Cruz, CA).
Techniques: Fluorescence, In Situ Hybridization, Sequencing, Control