Cloning of the Huntington disease region in yeast artificial chromosomes

Zuo, Jian; Robbins, Carolyn; Taillon-Miller, Patricia; Cox, David; Myers, R

doi:10.1093/hmg/1.3.149

Cited by 16 publications

(11 citation statements)

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“…A subset of these studies has pinpointed 4p16.3 as a likely tumour suppressor gene locus. 4p16.3 is a gene rich region which has been extensively mapped due to its proximity to the Huntington's disease gene (Hadano et al, 1998;McCombie et al, 1992;Pribill et al, 1997;Zuo et al, 1992). One candidate gene located in this region is FGFR3.…”

Section: Introductionmentioning

confidence: 99%

Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma

2001

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4p16.3 has previously been identi®ed as a region of nonrandom LOH in transitional cell carcinoma, suggesting the presence of a tumour suppressor gene. One candidate within this region is ®broblast growth factor receptor 3 (FGFR3). Germline mutations in FGFR3 are known to cause several autosomal dominant skeletal dysplasias, the severity of which depends on the position and nature of the mutation in the protein. We investigated the frequency and nature of FGFR3 mutations in a panel of transitional cell carcinomas and cell lines and studied the possible link between mutation and loss of heterozygosity (LOH) on 4p16.3. FGFR3 coding sequence from 63 transitional cell carcinomas (TCC) of various stages and grades, and 18 cell lines was analysed by¯uorescent SSCP. Samples with abnormal migration patterns were sequenced to identify the mutation or polymorphism. Thirty-one of the 63 tumours had previously been assessed to have LOH at 4p16.3. Twenty-six of the 63 tumours (41%) and 4/18 (22%) of the cell lines had missense mutations in FGFR3. All mutations detected in our panel have been reported in the germline where all apart from one cause lethal conditions. One tumour contained K652Q which has recently been identi®ed in less severe cases of skeletal dysplasia. Tumours with and without LOH at 4p16.3 had mutations in FGFR3 suggesting that these two events are not causally linked. The frequency of FGFR3 mutation indicates that this protein plays an important role in TCC. Oncogene (2001) 20, 686 ± 691.

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Section: Introductionmentioning

confidence: 99%

Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma

2001

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“…(Table 1). A total of 15 YAC ends were isolated by a combination of the inverse PCR and homologous recombination methods (Hermanson et al 1991;Silverman et al 1991;Zuo et al 1992). For each YAC end isolated, we first confirmed that it was from Chromosome 6 by using either a panel of somatic cell hybrid (SCH) cell lines (Fig.…”

Section: A High-resolution Genetic Map Of the Lc Regionmentioning

confidence: 99%

“…Four different buffer conditions were used: TNK25, TNK50, TNKIO0 (Zuo et al 1992) and 10 x PCR buffer (Perkin-Elmer Cetus). All PCR reactions were carried out in 25-~tl volume.…”

Section: Pcr Amplificationmentioning

confidence: 99%

“…Positive clones were purified; both agarose blocks (5 × 1 0 7 cells/ block) and liquid DNA were made as described previously (Zuo et al 1992). The sizes of YAC inserts were determined by PFGE as described below.…”

Section: Yac Isolation and Characterizationmentioning

confidence: 99%

“…YACs; procedures and sequences have been described elsewhere (Hermanson et al 1991;Silverman et al 1991;Zuo et al 1992). …”

Section: A Yac Contig Of the Lurcher Locusmentioning

confidence: 99%

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Generation of a high-resolution genetic map and a YAC contig of the Lurcher locus on mouse chromosome 6.

Zuo

Jager²,

Norman³

1995

Genome Res.

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Lurcher (L0 is a semidominant mouse mutant that displays progressive neurodegeneration during perinatal development. This genetic lesion results in apoptotic neuronal death in a dosage dependent and cell autonomous manner in specific neurons during their terminal differentiation. To understand the molecular basis of the Lc mutation, we have adopted a positional cloning approach based on its location on mouse chromosome 6. To define the Lc locus, we have extended our previous analysis of an intersubspecific backcross between Plus m. castaneus and B6CBACa-AW-~IA-Lc consisting of 504 animals [Norman et al. 1991). in addition, 580 animals of a generic backcross between Mus spretus and CS7BL/6 (The European Collaborative Interspecific Backcross) were utilized for the fine genetic mapping of the Lc locus. Using three RFLP markers and nine microsatellite markers in the vicinity of the Lc locus, we determined the order and relative genetic distances of these markers at a resolution of 0.1 cM. The Lc mutation was mapped between two flanking markers, D6Mitl21 and D61it175, separated by a genetic distance of 0.5 cM. We then initiated the cloning of the genomic region surrounding these two markers by screening a YAC library and characterizing YAC end sequences for further screening. This effort has resulted in the construction of a YAC contig consisting of 14 YACs and spanning a 3-Mb region. Markers isolated from these YACs were used to further define the Lc locus, resulting in a physical map that places the Lc gene within an estimated 300-kb interval. This set of YACs and markers will serve as DNA sources for the identification of the Lc gene.

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Fluorescence in situ hybridization deletion mapping at 4p16.3 in bladder cancer cell lines refines the localisation of the critical interval to 30 kb

Bell

Zuo

Myers

et al. 1996

Genes Chromosom. Cancer

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Cloning of the Huntington disease region in yeast artificial chromosomes

Cited by 16 publications

References 0 publications

Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma

Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma

Generation of a high-resolution genetic map and a YAC contig of the Lurcher locus on mouse chromosome 6.

Fluorescence in situ hybridization deletion mapping at 4p16.3 in bladder cancer cell lines refines the localisation of the critical interval to 30 kb

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