A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig

Murrell, Jill R.; Trofatter, James A.; Rutter, M.; Cutone, Steven; Stotler, Christy; Rutter, Joni L.; Long, Kimberly R.; Turner, A. Keith; Deaven, Larry L.; Buckler, Alan; McCormick, Mary Kay

doi:10.1016/0888-7543(95)80109-y

Cited by 14 publications

(10 citation statements)

References 11 publications

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“…Cosmid clones were identified from a chromosome 9-specific library constructed at the Lawrence Livermore National Laboratory (Van Dilla and Deaven 1990). YAC and cosmid colony filters were stamped and prepared for hybridization as described (McCormick et al 1993;Murrell et al 1995). Library pools for PCR screening were generated from both YAC libraries and used to amplify Alu-PCR products that were spotted on filters for hybridization screening with Alu-PCR products from individual clones.…”

Section: Librariesmentioning

confidence: 99%

“…When overlapping clones were not identified, end clones were rescued from the YACs, hybridized back to the existing contig to distinguish the internal and extending YAC ends, and then used to screen the cosmid libraries. Positive cosmids were arranged into 96-well microtiter dishes, and colony filters were stamped and prepared as described (Murrell et al 1995). The cosmid filters were probed with poly(dGT) (Pharmacia) or the tri/ tetraoligonucleotide cocktail (GIBCO/BRL) to identify SSRcontaining clones.…”

Section: Physical Mapping Strategy and Generation Of Ssr Polymorphismsmentioning

confidence: 99%

“…Yeast genomic DNA containing YACs, in pools or individual clones, was amplified with Alu primers S (5Ј-GAGGTTGCAG-TGAGCCGAGAT-3Ј) and J (5Ј-GAGGCTGCAGTGAGCCGTG-AT-3Ј), followed by purification (Murrell et al 1995).…”

Section: Alu-pcrmentioning

confidence: 99%

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Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium

Ozelius

Hewett

Kramer³

et al. 1997

Genome Res.

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The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%–40%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the AJ population placed the DYT1 gene in a 2-cM region between the loci D9S62a and ASS. A YAC contig has now been created spanning 600 kb of this region including D9S62a. The location of the DYT1 gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation. The most likely location of theDYT1 gene is within a 150 kb region between the lociD9S2161 and D9S63.

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Section: Librariesmentioning

confidence: 99%

Section: Physical Mapping Strategy and Generation Of Ssr Polymorphismsmentioning

confidence: 99%

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Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium

Ozelius

Hewett

Kramer³

et al. 1997

Genome Res.

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“…A cosmid and YAC contig of the region between DBH and D9S114 has been published using a chromosome 9 YAC library [7]. Murrell et al [7]described a YAC clone 14G for the D9S114 marker with an end STS, 14G5, on the proximal side and the D9S114 marker approximately 10-kb centromeric to the distal end of this YAC.…”

Section: Discussionmentioning

confidence: 99%

Physical and cDNA Mapping in the <i>DBH</i> Region of Human Chromosome 9q34

et al. 2000

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Chromosome 9q34 has been extensively studied and mapped due to the presence of known disease genes, principally tuberous sclerosis 1 (TSC1), in this region. During the course of our mapping of this region we constructed a 555-kb contig beginning approximately 50 kb proximal to the dopamine-β-hydroxylase (DBH) gene and extending, with one small deletion, distal to the D9S114 marker. The contig consists of 11 P1 clones, four PAC clones, one BAC clone and six cosmid clones and contains 27 new nonpolymorphic STSs. We have found the region to be unstable in P1, PAC and BAC cloning vehicles and have identified several deleted genomic clones. In addition, we have isolated and mapped the 3′ portions of three putative genes located within or immediately distal to the DBH gene, including one large gene that runs on the opposite strand to DBH and utilizes portions of two DBH exons. The genomic clones of the contig, cDNAs and new STSs will be useful reagents for the further study and mapping of this region.

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“…Our laboratories (Zuo et al 1993;Patil et al 1994) and others (e.g., see Baxendale et al 1993;Xie et al 1993;Murrell et al 1995) have generated cosmid contigs of several hundred kilobase stretches in a few regions of the human genome by using yeast artificial chromosome (YAC) clones to isolate cosmid clones. However, because we were unable to identify YAC clones in most of the segment of chromosome 21 containing the EPM1 gene, we used an alternative strategy to build a bacterial clone contig of the region.…”

Section: Strategymentioning

confidence: 99%

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

Stone¹,

Fan²,

Willour³

et al. 1996

Genome Res.

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The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPMI) is located on human chromosome 21q22.3 in a region defined by recombination breakpoints and linkage disequilibrium. As part of an effort to clone the EPM1 gene on the basis of its chromosomal location, we have constructed a 753-kb bacterial clone contig that encompasses the region containing the gene. Because DNA markers from the region did not identify intact yeast artificial chromosome (YAC) clones after screening several libraries, we built the contig from cosmid clones and used bacterial artificial chromosome (BAC) and bacteriophage PI clones to fill gaps. In addition to constructing the clone contig, we determined the locations of the E¢oRI, Sadl, EaBI, and Nod restriction sites in the clones, resulting in a high-resolution restriction map of the region. Most of the contig is represented by a level of redundancy that allows the orders of most restriction sites to be determined, provides multiple data points supporting the clone orders and orientations, and allows a set of clones with a minimum degree of overlap to be chosen for efficient additional analysis. The clone and restriction maps are in excellent agreement with maps generated of the region by other methods. These ordered bacterial clones and the mapping information obtained from them provide valuable reagents for isolating candidate genes for EPMI, as well as for determining the nucleotide sequence of a 750 kb region of the human genome.Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is inherited as an autosomal recessive disorder and is characterized by severe stimulus-sensitive myoclonus, tonicclonic seizures, and progressive neural degeneration. The age of onset is typically between 6 and 15 years. This condition is one of a group of five different subtypes of progressive myoclonus epilepsy, all of which show progressive neurodegeneration and variable degrees of severity. Unlike the other progressive myoclonus epilepsies, EPM1 is not characterized by biochemical markSCorresponding author. E-MAIL myers@shgc.stanford.edu; FAX (415) 725-9689.

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A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig

Cited by 14 publications

References 11 publications

Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium

Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium

Physical and cDNA Mapping in the <i>DBH</i> Region of Human Chromosome 9q34

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

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