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Open Access Research article

Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans

Lei Shi1, Ming Li12, Qiang Lin12, Xuebin Qi1 and Bing Su1*

Author Affiliations

1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, 32 East Jiao-Chang Road, Kunming, Yunnan 650223, PR China

2 University of the Chinese Academy of Sciences, No.19A Yuquan Road, Shijingshan District, Beijing, 100049, China

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BMC Biology 2013, 11:62  doi:10.1186/1741-7007-11-62

Published: 22 May 2013

Additional files

Additional file 1: Figure S1:

Summary of the E2F1 regulatory pathway. E2F1 could up-regulate cell apoptosis associated genes p73, p14ARF, Caspase7 and cell proliferation associated genes CyclinE1, p107, p18 and p27 promoters’ activity. E2F1 also represses the hTERT promoter activity.

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Open Data

Additional file 2: Figure S2:

Alignment of the full length MCPH1 protein sequences among different species including human, chimpanzee, gorilla, orangutan, gibbon, macaque, marmoset, rat, mouse, cow and dog. The framed sites are the human- and great-ape-specific sites.

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Open Data

Additional file 3: Table S1:

The physicochemical properties of MCPH1 lineage specific amino acids.

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Open Data

Additional file 4: Figure S3:

Alignment of the promoter sequences of p73, p107, p18, p27, p14ARF, Caspase7 and hTERT (genes’ transcriptional start site (TSS) downstream 500bp and TSS upstream 2000bp) among primate species including human, chimpanzee, gorilla, orangutan, macaque and marmoset. The aligned sequences are the E2F1-specific binding sites located in the promoter region. The promoter sequences of CyclinE1 were not available for most of the nonhuman primate species. For Caspase 7, the promoter sequences of chimpanzee and marmoset were not available. The numbers for positions are the distances from the transcriptional start site.

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Open Data

Additional file 5: Figure S4:

Alignment of the full length E2F1 protein sequences among different primate species including human, chimpanzee, gorilla and macaque.

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Open Data

Additional file 6: Figure S5:

The results of the enhancing assay for the E2F1 target genes p18, p27, p107 and Caspase7.

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Open Data

Additional file 7: Figure S6:

The results of the repressing assay for the target genes including p18, p27, p107, Caspase7 and TERT.

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Open Data

Additional file 8: Table S2:

Primers used for the generation of human-specific mutants.

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Open Data

Additional file 9: Table S3:

Primers used for the generation of great-ape-specific mutants.

Format: DOCX Size: 15KB Download file

Open Data