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Fig. 5 | Genome Medicine

Fig. 5

From: Genome annotation for clinical genomic diagnostics: strengths and weaknesses

Fig. 5

The processes involved in the ‘pseudogenisation’ of genes. a Processed pseudogenes are derived from mature mRNA that is reverse-transcribed by the viral L1 repeat enzyme reverse-transcriptase and reintegrated into the genome, and will generally lack introns. Processed pseudogenes are often flanked by direct repeats that might have some function in inserting the pseudogene into the genome and they are often missing sequence compared with their parent. Often they terminate in a series of adenines, which are the remains of the poly(A) tail, which is the site of genomic integration. b Unprocessed pseudogenes—the defunct relatives of functional genes—arise from genomic duplication. Such duplications can be complete or partial with respect to the parent gene

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