A cosmid and yeast artificial chromosome contig containing the complete ryanodine receptor (RYR1) gene

Journal Article · Sun Aug 01 04:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1329· OSTI ID:7009391

Rouquier, S; Giorgi, D; Trask, B; Bergmann, A; De Jong, P ^[1]; Phillips, M S; MacLennan, D H ^[2]

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1. Lawrence Livermore National Lab., CA (United States)
2. Univ., of Toronto, Ontario (Canada)

The ryanodine receptor (RYR1) gene is responsible for some forms of malignant hyperthermia and has been localized to 19q13.1. Central core disease is a genetic myopathy that is genetically linked to RYR1. The authors have identified an overlapping set of cosmid and YAC clones that spans more than 800 kb and includes the RYR1 gene ([approximately]205 kb). Cosmids from this region were identified by screening three chromosome 19 cosmid libraries (11-fold coverage) with six subclones representing the entire RYR1 cDNA. Genomic sequences from positive cosmids were then used as probes to identify additional cosmids. A minimally overlapping set of 23 cosmids was assembled into two contigs on the basis of restriction fragment analysis and hybridization data. Three YAC clones were isolated by screening a human YAC library with selected cosmid inserts. Overlaps among these YACs and the cosmid contigs were determined by hybridizing YAC Alu-PCR products to cosmid DNAs. The YACs bridged the gap between the cosmid contigs and extended the contig on both sides. Fluorescence in situ hybridization experiments positioned the RYR1 contig between GPI, MAG, and D19S191 on the proximal side and D19S190, CYP2A, CYP2F, SNRPA, BCKDHA, and other markers on the distal side. The 800-kb contig of cloned reagents will facilitate the detailed characterization of the RYR1 gene and other loci that may be closely related to central core disease. 62 refs., 3 figs., 3 tabs.

• DOE Contract Number: W-7405-ENG-48
• OSTI ID: 7009391
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:2; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
550900 -- Pathology
59 BASIC BIOLOGICAL SCIENCES
BODY TEMPERATURE
CHROMOSOMES
DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
ETIOLOGY
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 19
HUMAN CHROMOSOMES
HYBRIDIZATION
HYPERTHERMIA
MAPPING
MUSCLES
STRUCTURAL CHEMICAL ANALYSIS