The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene

A new YAC (yeast artificial chromosome) physical map of the 12 rice chromosomes was constructed utilizing the latest molecular linkage map. The 1439 DNA markers on the rice genetic map selected a total of 1892 YACs from a YAC library. A total of 675 distinct YACs were assigned to specific chromosomal locations. In all chromosomes, 297 YAC contigs and 142 YAC islands were formed. The total physical length of these contigs and islands was estimated to 270 Mb which corresponds to approximately 63% of the entire rice genome (430 Mb). Because the physical length of each YAC contig has been measured, we could then estimate the physical distance between genetic markers more precisely than previously. In the course of constructing the new physical map, the DNA markers mapped at 0.0-cM intervals were ordered accurately and the presence of potentially duplicated regions among the chromosomes was detected. The physical map combined with the genetic map will form the basis for elucidation of the rice genome structure, map-based cloning of agronomically important genes, and genome sequencing.Key words: physical mapping, YAC contig, rice genome, rice chromosomes.

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Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

Clinical Endocrinology ◽

10.1111/cen.12710 ◽

2015 ◽

Vol 83 (1) ◽

pp. 15-19 ◽

Cited By ~ 1

Author(s):

Nicholas Russell ◽

Martin Delatycki ◽

Mathis Grossmann

Keyword(s):

Disease Gene ◽

Unclassified Variant ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

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Molecular Analysis of the von Hippel-Lindau Disease Gene

Renal Cancer - Methods in Molecular Medicine ◽

10.1385/1-59259-144-2:193 ◽

2001 ◽

pp. 193-216

Author(s):

Allen Chernoff ◽

Viera Kasparcova ◽

W. Marston Linehan ◽

Catherine A. Stolle

Keyword(s):

Molecular Analysis ◽

Disease Gene ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

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Germline and Somatic Mutations in von Hippel-Lindau Disease Gene and Its Significance in the Development of Kidney Cancer

Contributions to Nephrology - Kidney Cancer ◽

10.1159/000059976 ◽

1999 ◽

pp. 1-10 ◽

Cited By ~ 11

Author(s):

T. Shuin ◽

K. Kondo ◽

S. Ashida ◽

H. Okuda ◽

M. Yoshida ◽

...

Keyword(s):

Kidney Cancer ◽

Somatic Mutations ◽

Disease Gene ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

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A 2.8 megabase YAC contig spanning D8S339, which is tightly linked to the Werner syndrome locus

Genome ◽

10.1139/g97-010 ◽

1997 ◽

Vol 40 (1) ◽

pp. 77-83

Author(s):

R. Bruskiewich ◽

M. Schertzer ◽

S. Wood

Keyword(s):

Human Chromosome ◽

Genetic Marker ◽

Yeast Artificial Chromosome ◽

Werner Syndrome ◽

Physical Map ◽

Artificial Chromosome ◽

Sequence Tagged Sites ◽

Yeast Artificial Chromosome Contig ◽

Yac Contig ◽

Chromosome 8P

A number of gene loci, including the locus for Werner syndrome (WRN), map to proximal human chromosome 8p near the genetic marker D8S339. In this report, we present a long range physical map of an approximately 2.8 megabase yeast artificial chromosome contig centred on D8S339. In this map, we localize the WRN-linked polymorphic sequence-tagged sites (STS) D8S339 and D8S1055, as well as a novel polymorphic STS, D8S2297. We also refine the positions of three known gene loci, GTF2E2, GSR, and PPP2CB, relative to the location of WRN within the map.Key words: WRN, GTF2E2, GSR, PPP2CB, physical map, human chromosome 8p.

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Dosage and Imprinting Effects in Abnormalities of Human Chromosome 15

Acta geneticae medicae et gemellologiae twin research ◽

10.1017/s0001566000001136 ◽

1996 ◽

Vol 45 (1-2) ◽

pp. 83-83 ◽

Cited By ~ 1

Author(s):

D.H. Ledbetter ◽

S.L. Christian ◽

T. Kubota ◽

A. Mutirangura ◽

J.S. Sutcliffe ◽

...

Keyword(s):

Yeast Artificial Chromosome ◽

Cpg Island ◽

Uniparental Disomy ◽

Artificial Chromosome ◽

Chromosome 15 ◽

Diagnostic Strategy ◽

Str Analysis ◽

Paternal Grandmother ◽

Cosmid Contigs ◽

Yac Contig

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by paternal deficiency (PWS) or maternal deficiency (AS) of gene(s) in 15qll.2-ql3. We have constructed a 3.5 Mb yeast artificial chromosome (YAC) contig of the PWS/AS region and cosmid contigs of selected YACs at D15S13, SNRPN, S10, and S113. Cosmid clones have been used for fluorescence in situ hybridization (FISH) detection of deletions in PWS and AS patients. In addition, a total of 28 short tandem repeat polymorphisms (STRs) have been mapped to specific YACs in the contig, providing a highly informative set of markers for detection of deletion or uniparental disomy (UPD) in PWS and AS patients. Use of the 3 most informative markers in this region (S542, S128, and ASSCA-1) plus 3 markers distal on 15q (S123, S125, and S131) provide an efficient diagnostic strategy for UPD15.A combination of FISH and STR analysis has identified small deletions in one sporadic and one familial case of PWS (family O). Both deletions involve all or part of the SNRPN gene but do not extend telomeric to PAR-5 or PAR-1, two novel transcripts expressed exclusively from the paternal chromosome. However, expression of SNRPN, PAR-5, and PAR-1 is lost in both cases, implying the presence of an imprinting control region near SNRPN. The smallest deletion in family O is estimated at approximately 30-40 kb in size and involves a newly identified CpG island at the 5′ end of SNRPN which is methylated on the maternal chromosome. This small deletion in two PWS affected siblings was present in the father and the paternal grandmother, both of whom were phenotypically normal.

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Genetic and contig map of a 2200-kb region encompassing 5.5 cM on chromosome 1 of Arabidopsis thaliana

Genome ◽

10.1139/g96-136 ◽

1996 ◽

Vol 39 (6) ◽

pp. 1086-1092 ◽

Cited By ~ 5

Author(s):

Christian S. Hardtke ◽

Thomas Berleth

Keyword(s):

Arabidopsis Thaliana ◽

Positional Cloning ◽

Yeast Artificial Chromosome ◽

Physical Map ◽

Primary Root ◽

Artificial Chromosome ◽

Chromosome 1 ◽

Rflp Markers ◽

Caps Markers ◽

Yac Contig

In the course of the isolation of the MONOPTEROS (MP) gene, required for primary root formation in Arabidopsis thaliana, a yeast artificial chromosome (YAC) contig encompassing approximately 2200 kilobases corresponding to 5.5 cM on the top arm of chromosome 1 was established. Forty-six YAC clones were characterized and 12 new restriction fragment length polymorphism (RFLP) markers are presented. Three new codominant amplified polymorphic sequence (CAPS) markers were generated that enabled high resolution genetic mapping and correlation of physical and genetic distances along the contig. The map contributes to the completion of a physical map of the Arabidopsis genome and should facilitate positional cloning of other genes in the region as well as studies on genome organization. We also present another set of 11 physically linked probes, as well as mapping data for additional RFLP markers within a broader interval of 10.4 cM. Key words : Arabidopsis, CAPS markers, MONOPTEROS gene, physical map, RFLP markers, YAC contig.

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