Author: Bekpen, Cemalettin; Tautz, Diethard
Title: Human core duplicon gene families: game changers or game players? Document date: 2019_9_16
ID: 0fjh10v7_26
Snippet: The PMS2P gene family is derived from the PMS2 gene, which encodes a homolog of the mutL mismatch repair gene from bacteria [41] . PMS2P genes duplicated to eight dispersed copies (PMS2P1-5, 7, 9 and 11) from the C-terminal region of the PMS2 gene located on human chromosome 7 [42] . The current marmoset and macaque genome assemblies do not include an intact PMS2P gene. However, the Orangutan genome includes three complete PMS2P copies. This sugg.....
Document: The PMS2P gene family is derived from the PMS2 gene, which encodes a homolog of the mutL mismatch repair gene from bacteria [41] . PMS2P genes duplicated to eight dispersed copies (PMS2P1-5, 7, 9 and 11) from the C-terminal region of the PMS2 gene located on human chromosome 7 [42] . The current marmoset and macaque genome assemblies do not include an intact PMS2P gene. However, the Orangutan genome includes three complete PMS2P copies. This suggests an expansion of PMS2P genes occurred within great apes. More work will be required to show whether they were lost in some primate genomes, or whether this is still an annotation problem. The PMS2P gene region is highly repetitive and contains multiple transposable elements (SINEs and LINEs), which make its annotation problematic.
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