Abstract
Mutations in the human gene TCOF1 cause a mandibulofacial dysostosis known as Treacher Collins syndrome (TCS). An infant rhesus macaque (Macaca mulatta) that displayed the TCS phenotype was identified at the California National Primate Research Center. The TCOF1 coding region was cloned from a normal rhesus macaque and sequenced. The rhesus macaque homolog of TCOF1 is 91.6% identical in cDNA sequence and 93.8% identical in translated protein sequence compared to human TCOF1. Sequencing of TCOF1 in the TCS-affected rhesus macaque showed no mutations within the coding region or splice sites; however, real-time quantitative PCR showed an 87% reduction of spleen TCOF1 mRNA level in the TCS affected macaque when compared with normal macaque spleen.
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Acknowledgments
The authors thank Marc Busch, Cindy Heisey, and Julie Heiner for their technical assistance and Wilhelm vonMorganland for his monkey photographs. AGH is supported by the California National Primate Research Center Base Operating Grant, NIH/NCRR grant RR00169. GZ was supported by grant EEC0234104 from the NSF/NIH Bioinformatics and Bioengineering Summer Institute program. RS was supported by NIDCR grant 1-RO1-DE13172.
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Nucleotide sequence data reported are available in the DDBJ/EMBL/GenBank databases under the accession numbers DQ085095 and DQ085096.
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Shows, K.H., Ward, C., Summers, L. et al. Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease. Mamm Genome 17, 168–177 (2006). https://doi.org/10.1007/s00335-005-0079-y
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DOI: https://doi.org/10.1007/s00335-005-0079-y