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. Author manuscript; available in PMC: 2008 Jun 1.
Published in final edited form as: Sleep Med. 2007 Apr 30;8(4):373–399. doi: 10.1016/j.sleep.2007.03.008

Fig. 3. Genomic organization of the canine Hcrtr 2 locus.

Fig. 3

The Hcrtr 2 gene is encoded by 7 exons. Sequence of exon-intron boundary at the site for the deletion of the transcript revealed that the canine short interspersed nucleotide element (SINE) was inserted 35 bp upstream of the 5′ splice donor site of the fourth encoded exon in narcoleptic Doberman Pinschers. This insertion falls within the 5′ flanking intronic region needed for pre-mRNA Lariat formation and proper splicing, causing exon 3 to be spliced directly to exon 5, and exon 4 to be omitted. This mRNA potentially encodes a non-functional protein with 38 amino acids deleted within the 5th transmembrane domain, followed by a frameshift and a premature stop codon at position 932 in the encoded RNA. In narcoleptic Labradors, the insertion was found 5 bp downstream of the 3′ splice site of the fifth exon, and exon 5 is spliced directly to exon 7, omitting exon 6.