Physical map and characterization of transcripts in the candidate intervalfor familial chondrocalcinosis at chromosome 5p15.1

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, betw een the polymorphic microsatellite markers D5S416 and D5S2114. We have unde rtaken the physical and transcript mapping of this interval, as well as reg ions telomeric to the interval, in an attempt to define ultimately the gene for this disorder. The physical map is composed of YAC, BAG, PAC, and cosm id resources and spans a physical distance of approximately 0.3 Mb. Using c DNA 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 over lap with the selected cDNAs that reside in the candidate interval. All of t he selected cDNAs are expressed partial transcripts, as determined by North ern blot analysis, and using RT-PCR analysis, me have determined that the c DNAs that reside in the candidate interval are expressed in cartilage and s ynovium, tissues that are presumably relevant to the chondrocalcinosis phen otype. (C) 1999 Academic Press.