Genetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region

Jabs, Ethylin Wang; Li, Xiang; Lovett, Michael; Yamaoka, Larry H.; Taylor, Eugene W.; Speer, Marcy C.; Coss, Cathleen A.; Cadle, Ronald G.; Hall, Brad; Brown, Karen; Kídd, Kenneth K.; Dolganov, Gregory; Polymeropoulos, Mihael H.; Meyers, Deborah A.

doi:10.1006/geno.1993.1420

Cited by 35 publications

(6 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Moreover, it provides additional support for the genetic homogeneity of this condition. Indeed, studies of all families hitherto reported on (43 families) have suggested linkage of the disease locus to markers in the region 5q32-33.1, with none showing evidence of non-linkage [Dixon et al, 1993;Jabs et al, 1993;and this study]. Taken together, linkage data in TCOF favor the view that diagnostic prediction in relatives and first-trimester prenatal DNA samples is now feasible.…”

Section: Discussionsupporting

confidence: 51%

Apparent genetic homogeneity of the treacher Collins‐Franceschetti syndrome

et al. 1994

View full text Add to dashboard Cite

The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at theta = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analyses [Dixon et al.: Am J Hum Genet 49:17-22, 1991, Am J Hum Genet 52:907-914, 1993; Jabs et al.: Genomics 11:193-198, 1991, Genomics 18:7-13, 1993] and provide further evidence of genetic homogeneity in this syndrome.

show abstract

Section: Discussionsupporting

confidence: 51%

Apparent genetic homogeneity of the treacher Collins‐Franceschetti syndrome

et al. 1994

View full text Add to dashboard Cite

show abstract

“…Of these patients, six were familial cases that showed linkage consistent with the disease locus at the chromosome 5q3 region 11 and 29 had previously been tested for mutations in exons 4-16 through heteroduplex analysis. 4 Screening of mutations by SSCP of PCR amplified products was performed as described elsewhere.…”

Section: Methodsmentioning

confidence: 99%

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

Splendore

Jabs

Passos‐Bueno

2002

Journal of Medical Genetics

View full text Add to dashboard Cite

“…154500) was initially localized to chromosome 5q31-33.3 by genetic linkage analysis (6,7). This was then refined to the region between the colony stimulating factor 1 receptor gene (CSF1R) (proximally) and osteonectin gene (SPARC) (distally) (8,9), and subsequently further refined to between marker D5S519, which is distal to CSF1R and SPARC (10). Physical and transcription maps of these regions were constructed (11)(12)(13).…”

mentioning

confidence: 99%

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

Wise

Chiang

Paznekas

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

163

142

View full text Add to dashboard Cite

Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon͞intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.

show abstract

Genetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region

Cited by 35 publications

References 0 publications

Apparent genetic homogeneity of the treacher Collins‐Franceschetti syndrome

Apparent genetic homogeneity of the treacher Collins‐Franceschetti syndrome

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

Contact Info

Product

Resources

About