The length of dogs’ legs varies widely across species, with the Nova Scotia duck tolling retriever representing a short-legged breed. Genome-wide association studies (GWAS) linked this phenotype to a locus on Canine familiaris (CFA) chromosome 12 with strong similarity to the FGF4 gene on chromosome 18. Further work demonstrated that both loci are transcribed. Note: CpG islands (green in diagram) often mark active promoters; we will discuss in a later lecture.   Based on the diagram below, what do you think is the relationship between these two loci?                 The genome sequence shows another locus on chromosome 10 that is almost identical to the one depicted above on chromosome 12, from 5’UTR through 3’UTR. The gene does have one polymorphism, though, in exon 2, that distinguishes it from the Chr. 12 gene. You have developed an assay to easily distinguish mRNA derived these two variants. However, when you assay the Chr. 10-derived mRNA, you don’t detect anything at all. Suggest one explanation for this result.

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Genome annotation

The technique of linking biological information to genome sequences is termed genome annotation. Gene annotation is the method of identifying gene locations and coding sections. It helps us understand what these genes are doing in the body through establishing structural characteristics and linking them to the actions of various proteins.