Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome

Further evidence for haploinsufficiency of treacle as the cause of disease

Kathryn H. Shows, Christy Ward, Laura Summers, Lin Li, Gregory R. Ziegler, Andrew G Hendrickx, Rita Shiang

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)168-177
Number of pages10
JournalMammalian Genome
Volume17
Issue number2
DOIs
StatePublished - Feb 2006

Fingerprint

Mandibulofacial Dysostosis
Haploinsufficiency
Macaca mulatta
Messenger RNA
Macaca
Spleen
Mutation
Primates
Real-Time Polymerase Chain Reaction
Complementary DNA
Phenotype
Research
Genes
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome : Further evidence for haploinsufficiency of treacle as the cause of disease. / Shows, Kathryn H.; Ward, Christy; Summers, Laura; Li, Lin; Ziegler, Gregory R.; Hendrickx, Andrew G; Shiang, Rita.

In: Mammalian Genome, Vol. 17, No. 2, 02.2006, p. 168-177.

Research output: Contribution to journalArticle

Shows, Kathryn H. ; Ward, Christy ; Summers, Laura ; Li, Lin ; Ziegler, Gregory R. ; Hendrickx, Andrew G ; Shiang, Rita. / Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome : Further evidence for haploinsufficiency of treacle as the cause of disease. In: Mammalian Genome. 2006 ; Vol. 17, No. 2. pp. 168-177.
@article{b8d3a1f8c0834a02aae76fc55c74a352,
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.",
author = "Shows, {Kathryn H.} and Christy Ward and Laura Summers and Lin Li and Ziegler, {Gregory R.} and Hendrickx, {Andrew G} and Rita Shiang",
year = "2006",
month = "2",
doi = "10.1007/s00335-005-0079-y",
language = "English (US)",
volume = "17",
pages = "168--177",
journal = "Mammalian Genome",
issn = "0938-8990",
publisher = "Springer New York",
number = "2",

}

TY - JOUR

T1 - Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome

T2 - Further evidence for haploinsufficiency of treacle as the cause of disease

AU - Shows, Kathryn H.

AU - Ward, Christy

AU - Summers, Laura

AU - Li, Lin

AU - Ziegler, Gregory R.

AU - Hendrickx, Andrew G

AU - Shiang, Rita

PY - 2006/2

Y1 - 2006/2

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=32144436428&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=32144436428&partnerID=8YFLogxK

U2 - 10.1007/s00335-005-0079-y

DO - 10.1007/s00335-005-0079-y

M3 - Article

VL - 17

SP - 168

EP - 177

JO - Mammalian Genome

JF - Mammalian Genome

SN - 0938-8990

IS - 2

ER -