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Fig. 5 | BMC Genomics

Fig. 5

From: NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome

Fig. 5

Structural relationships of SD1 and SD2 among primates, PWWP1 and NSL modelling A) SD1 structural relationships among primates. Super domain 1 is formed by the PWWP1 domain. M. musculus lacks the complete region and was excluded from the analysis. Homo sapiens separates from the rest of the primates, suggest a unique structure. B) SD2 structural relationships among analyzed species. Super domain 2 is formed by their central catalytic core of the protein, the SET domain. S. apella localized above of the outgroup. The rest of the species grouped in 3 clades. Clade A included H. sapiens, P. troglodytes and C. syrichta. Clade B grouped P. tephrosceles, M. mulatta, H. Moloch, P. abeli and O. garnettii in an ascending formation. Clade C included G. gorilla and M. murinus. C) The PWWP1 structure is composed of a five stranded beta barrel followed by a helix bundle. Left: O. garnettii, center: C. syrichta, right: human. The progressive changes between species suggest a complex evolution. D) NSLs distribution on NSD1 surface. Green: NSL1, cyan: NSL2 and orange NSL3. The three NSL have a triangular distribution around the surface allowing them to interact with other proteins

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