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Start Over Author "Van Soest, S." Journal cytogenetics and cell genetics
3 results on '"Van Soest, S."'

1. Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC)

Author

van Soest, S., te Nijenhuis, S., van den Born, L.I., Bleeker-Wagemakers, E.M., Sharp, E., Sandkuijl, L.A., Westerveld, A., and Bergen, A.A.B.

Abstract

In a previous study on a large pedigree from a genetically isolated population in the Netherlands, we localized a gene for autosomal recessive retinitis pigmentosa with para-arteriolar preservation of the retinal pigment epithelium (PPRPE) on the long arm of chromosome 1. In this study, we present an integrated genetic map of the target region. The resulting genetic order of the markers was used to construct haplotypes and to screen for key-recombinants in the pedigree. The obligate RP12 region was reduced from 16 cM to 5 cM between the markers D1S533 and CACNLl A3. The CACNL1A3 and phosducin (PDC) genes were placed outside the candidate gene region, thereby excluding the involvement of these genes in retinitis pigmentosa with PPRPE. Our data result in the following order of the markers and genes in the region 1q31→q32.1: cen–DlS158–(DlS238–DlS422VPDC–D1S533–RP12/(F13B–D1S413) –CACNL1A3–D1S477–DlS306–DlS53–tel.

Published
1996
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2. Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes.

Author

van Soest S, van Rossem MJ, Heckenlively JR, van den Born LI, de Meulemeester TM, Vliex S, de Jong PT, Bleeker-Wagemakers EM, Westerveld A, and Bergen AA

Subjects
Adolescent, Base Sequence, Child, Chromosome Mapping, Chromosomes, Artificial, Yeast genetics, DNA Primers genetics, DNA, Complementary genetics, Expressed Sequence Tags, Female, Genes, Recessive, Genetic Markers, Haplotypes, Humans, Male, Pedigree, Physical Chromosome Mapping, Pseudogenes, Chromosomes, Human, Pair 1 genetics, Retinitis Pigmentosa genetics
Abstract

The gene for autosomal recessive retinitis pigmentosa (RP12) with preserved para-arteriolar retinal pigment epithelium was previously mapped close to the F13B gene in region 1q31-->q32.1. A 4-Mb yeast artificial chromosome contig spanning this interval was constructed to facilitate cloning of the RP12 gene. The contig comprises 25 sequence-tagged sites, polymorphic markers, and single-copy probes, including five newly obtained probes. The contig orders the F13B and HF1 genes, as well as five expressed sequence tags, with respect to the integrated genetic map of this region. Homozygosity mapping resulted in refinement of the candidate gene locus for RP12 to a 1. 3-cM region. Currently, approximately 1 Mb of the contig is represented in P1-derived artificial chromosome (PAC) clones. Direct screening of a cDNA library derived from neural retina with PACs resulted in identification of the human elongation factor 1alpha pseudogene (EEF1AL11) and a human ribosomal protein L30 pseudogene (RPL30). A physical and genetic map covering the entire RP12 candidate gene region was constructed.

Published
1999
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3. Protein tyrosine phosphatase receptor type C polypeptide (PTPRC) on human chromosome band 1q31-->q32 localizes with marker D1S413(1) on a 610-kb yeast artificial chromosome.

Author

Goff LK, van Soest S, Timón M, Tchilian E, and Beverley PC

Subjects
CpG Islands genetics, Humans, Intracellular Signaling Peptides and Proteins, Polymerase Chain Reaction, Chromosomes, Artificial, Yeast genetics, Chromosomes, Human, Pair 1 genetics, Genetic Markers genetics, Membrane Proteins, Phosphoproteins genetics, Restriction Mapping
Published
1999
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