title: Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.
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.
authors.affiliation: Department of Human Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA. khshows@vcu.edu
authors.forename: Kathryn H
authors.initials: KH
authors.lastname: Shows
authors.forename: Christy
authors.initials: C
authors.lastname: Ward
authors.forename: Laura
authors.initials: L
authors.lastname: Summers
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Gregory R
authors.initials: GR
authors.lastname: Ziegler
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Hendrickx
authors.forename: Rita
authors.initials: R
authors.lastname: Shiang
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D003001:Cloning, Molecular; D005260:Female; D006239:Haplotypes; D006801:Humans; D008253:Macaca mulatta; D008342:Mandibulofacial Dysostosis / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000096:biosynthesis* / Q000235:genetics; D010641:Phenotype; D010750:Phosphoproteins / Q000096:biosynthesis* / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis*; D017386:Sequence Homology, Amino Acid; D013154:Spleen / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; D012333:RNA, Messenger; C105442:TCOF1 protein, human