Figure 3

The mapped CSNB interval and the genetic variant in LRIT3 leading to a premature stop codon. (a) The 4.6 Mb mapped CSNB interval (shaded in orange) in canine chromosome 32 (CFA32) shown with the 22 genes localized in the region. (b) The 1 bp deletion is located in exon 3 of LRIT3. (c) Representative chromatograms showing the c.762_763delG variant in heterozygous and homozygous states in the carrier and CSNB, respectively, while it is absent in WT. (d) Alignment of LRIT3 across different species indicating high evolutionary conservation of the immunoglobulin c2 type (IGc2) domain where the 1 bp deletion was identified (highlighted in yellow). The sequences used for alignment are: XP_005156597.2 (Zebra fish), XP_007668336.1 (Platypus), XP_007496058.1 (Opossum), AHI87499.1 (Mouse), NP_001178443.1 (Cow), XP_005555723.1 (Monkey), AAI04038.1 (Human), XP_001139031.3 (Chimp), XP_853150.3 (Dog) and XP_003985132.1 (Cat). (e) Domains of canine LRIT3 as predicted by Scan Prosite (https://prosite.expasy.org). The red arrow indicates the location of the deletion. SP, signal peptide; LRR, leucine rich repeat; LRR_TYP, LRR type; LRRCT, LRR C-terminal; IGc2, immunoglobulin c2 type; FN3, fibronctin type 3; TM, transmembrane.