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Figure 2 | Human Genomics

Figure 2

From: Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism

Figure 2

The conserved G-quadruplex motif (CG). This motif in the 5′-UTR of Homo sapiens, Canis lupus familiaris, and the Mus musculus MECP2 mRNAs maps to a known deletion in the human MECP2 gene leading to Rett syndrome. The predicted tetrad forming G-tracts of the quadruplex are underlined. This conserved G-quadruplex is likely to get disrupted due to the 11-bp deletion which is known to affect MECP2 translation in some Rett syndrome patients. The deletion is marked in the box with bold characters. The numbers represent upstream distances from the CDS start sites of the respective mRNAs.

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Human Genomics

ISSN: 1479-7364