High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

Vosse, Esther van de; Bent, Paola van der; Heus, J. J.; Ommen, G.J.B. van; Dunnen, Johan T. den

doi:10.1007/s003359900483

Cited by 11 publications

(11 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Section: Resultsmentioning

confidence: 99%

“…Figure 2 shows a selection of fragmented YACs, ordered by size. The panel was analyzed with several rare-cutting restriction endonucleases and no inconsistencies were found (Van de Vosse et al 1997).Fragmentation vectors for centromeric fragmentation of YACs have been described (Pavan et al 1991;Larionov et al 1996). However, as these vectors carry the HIS3 marker, they do not allow direct fragmentation of AB1380 YACs.…”

mentioning

confidence: 99%

“…However, no direct comparisons have been performed. Both vectors have been used successfully to obtain a detailed rare-cutter restriction map of a 2300-kb region on the X chromosome ( Van de Vosse et al 1997). Two other groups have also obtained truncated YACs using these plasmids (G. Williams and M. Cruts, unpubl.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Centromeric and Noncentromeric ADE2-Selectable Fragmentation Vectors for Yeast Artificial Chromosomes in AB1380

Heus

Winther²,

Vosse³

et al. 1997

Genome Res.

Self Cite

View full text Add to dashboard Cite

We have constructed a set of fragmentation vectors for the truncation of either the centromeric or the noncentromeric end of YACs containing a human DNA insert. These vectors carry ADE2 or HIS5 as the selectable marker, enabling direct use in AB1380, the host strain of most publicly available YAC libraries. Centromeric fragmentation vectors for AB1380 have not been reported previously; the noncentromeric vectors show high frequencies of fragmentation.Yeast artificial chromosomes (YACs) consist of a large (50-2500 kb) DNA insert, flanked on both sides by a yeast selectable marker and a telomere, and on one side by a yeast centromere. An important application of YACs lies in the mapping of the human genome and the isolation of human disease genes. YAC contigs now cover nearly the entire human genome (Chumakov et al. 1995), but the depth of these contigs is often not sufficient to allow highresolution ordering of markers. Because many candidate regions for disease genes have been allocated to YAC contigs still comprising several megabases, improvement of the resolution of these contigs is highly desirable. More recent, complementary resources in contig generation are bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) libraries. Although valuable in the ultimate generation of sequence-ready genomic regions, they preclude the delineation of the available YAC contig information in the megabase range, as the assembly of BAC/PAC contigs is a de novo endeavor. YAC fragmentation, that is, the creation of YACs with deletions from one end (Pavan et al. 1990), is an attractive method for obtaining more refined mapping while optimally using existing knowledge. Compared to the common route of constructing cosmid contigs, YAC fragmentation is a simple and quick alternative. Furthermore, YAC fragmentation provides the possibility of discarding the noninteresting parts of a YAC, which is useful for subsequent studies like the production of welldefined restriction maps, subcloning, gene searches, and gene characterizations, and as an attractive tool to focus YAC-derived transgene studies.YAC fragmentation is based on the presence of sequences in the YAC insert homologous to a part of the fragmentation vector, which further contains a selectable marker, a telomere, and a centromere if the centromeric arm is to be targeted. Common repeats like the long interspersed repetitive element (LINE) and, in particular, Alu are attractive candidates for this purpose, as they occur frequently in YACs with a human insert. The series of fragmentation vectors described by Pavan et al. (1991) (Albertsen et al. 1990;Anand et al. 1990;Larin et al. 1991), have been constructed in yeast strain AB1380, which is not his3 ‫מ‬ . Therefore, YACs must first be transferred to a his3 ‫מ‬ background, through meiosis or kar1 transfer (Spencer et al. 1994), before these vectors can be used. To bypass this problem, we have adapted existing fragmentation vectors with the ADE2 gene and/or CEN6, thereby creating a set of vectors that ca...

show abstract

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Centromeric and Noncentromeric ADE2-Selectable Fragmentation Vectors for Yeast Artificial Chromosomes in AB1380

Heus

Winther²,

Vosse³

et al. 1997

Genome Res.

Self Cite

View full text Add to dashboard Cite

show abstract

“…The KFSD candidate region in the Dutch family now spans approx. 1 Mb (Ferrero et al 1995;Nelson et al 1995;Van de Vosse et al 1996, 1997 and is localized in the proximity of several disease genes as listed by Ferrero et al (1995). Moreover, the recombination in VI-13 in family D partly elucidates the relative positioning of locus DXS1683.…”

Section: Discussionmentioning

confidence: 99%

“…Table 1 Marker information and key recombinants concerning Xchromosome markers (in physical order) located at Xp22.2-p21.2 used for analysis (based on Oosterwijk et al 1992 and order data based on Nelson et al 1995;Chumakov et al1995;Ferrero et al 1995;van de Vosse et al 1996van de Vosse et al , 1997J. Weissenbach, personal communication) a Observed heterozygosity (%) or PIC value in literature b í = at risk allele; = not at risk allele; -= maternal homozygosity or phase unknown; ?…”

Section: Dna Analysismentioning

confidence: 99%

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

Oosterwijk¹,

Richard

Vanderwielen

et al. 1997

Human Genetics

View full text Add to dashboard Cite

X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes. In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13-p22.2. By analyzing several new markers in this region, we were able to narrow the candidate region to a 1-Mb interval between DXS7161 and (DXS7593, DXS7105) in the large Dutch pedigree. In addition, we analyzed 23 markers in Xp21.2-p22.2 in a German family with KFSD. Haplotype and recombination analysis positioned the KFSD gene in this family most likely outside the candidate region on Xp22.13-p22.2. This finding is suggestive for genetic heterogeneity: in this pedigree there is either another locus on the X-chromosome, or KFSD is transmitted here as an autosomal dominant trait with variable expression.

show abstract

Characterization ofSCML1,a New Gene in Xp22, with Homology to Developmental Polycomb Genes

et al. 1998

Self Cite

View full text Add to dashboard Cite

High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

Cited by 11 publications

References 21 publications

Centromeric and Noncentromeric ADE2-Selectable Fragmentation Vectors for Yeast Artificial Chromosomes in AB1380

Centromeric and Noncentromeric ADE2-Selectable Fragmentation Vectors for Yeast Artificial Chromosomes in AB1380

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

Characterization ofSCML1,a New Gene in Xp22, with Homology to Developmental Polycomb Genes

Contact Info

Product

Resources

About