title: Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1.
abstract: The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to the interval, in an attempt to define ultimately the gene for this disorder. The physical map is composed of YAC, BAC, PAC, and cosmid resources and spans a physical distance of approximately 0.3 Mb. Using cDNA selection, we have identified eight novel transcripts in and around the interval; two of the selected transcripts reside in the candidate interval. We have also more precisely placed several expressed sequence tags (ESTs) that were previously mapped by radiation hybrid analysis and were reported to reside in or near the candidate interval. Two of the ESTs analyzed overlap with the selected cDNAs that reside in the candidate interval. All of the selected cDNAs are expressed partial transcripts, as determined by Northern blot analysis, and using RT-PCR analysis, we have determined that the cDNAs that reside in the candidate interval are expressed in cartilage and synovium, tissues that are presumably relevant to the chondrocalcinosis phenotype.
authors.affiliation: Department of Biochemistry and Molecular Pharmacology, Division of Rheumatology, Philadelphia, Pennsylvania 19107, USA.
authors.forename: K
authors.initials: K
authors.lastname: Rojas
authors.forename: L
authors.initials: L
authors.lastname: Serrano de la Peña
authors.forename: T
authors.initials: T
authors.lastname: Gallardo
authors.forename: A
authors.initials: A
authors.lastname: Simmons
authors.forename: K
authors.initials: K
authors.lastname: Nyce
authors.forename: R
authors.initials: R
authors.lastname: McGrath
authors.forename: E
authors.initials: E
authors.lastname: Considine
authors.forename: A J
authors.initials: AJ
authors.lastname: Vasko
authors.forename: E
authors.initials: E
authors.lastname: Peterson
authors.forename: D
authors.initials: D
authors.lastname: Grady
authors.forename: R
authors.initials: R
authors.lastname: Cox
authors.forename: L J
authors.initials: LJ
authors.lastname: Andrew
authors.forename: M
authors.initials: M
authors.lastname: Lovett
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
authors.forename: C J
authors.initials: CJ
authors.lastname: Williams
mesh_terms: D000328:Adult; D015152:Blotting, Northern; D002805:Chondrocalcinosis / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020451:Contig Mapping; D003360:Cosmids; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics*; D020224:Expressed Sequence Tags; D006801:Humans; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic
chemical_list: D018076:DNA, Complementary