title: The L-gulono-gamma-lactone oxidase gene (GULO) which is a candidate for vitamin C deficiency in pigs maps to chromosome 14.
abstract: Vitamin C deficient pigs, when fed a diet lacking L-ascorbic acid (AscA), manifest deformity of the legs, multiple fractures, osteoporosis, growth retardation and haemorrhagic tendencies. This trait was shown by others to be controlled by a single autosomal recessive allele designated as od (osteogenic disorder). The inability of AscA biosynthesis in primates and guinea pigs that exhibit similar symptoms, when they are not supplemented with AscA in the food, was traced to the lack of L-gulono-gamma-lactone oxidase, which catalyzes the terminal step in the biosynthesis of AscA. The non-functional GULOP was mapped to human chromosome 8p21 that corresponds to an evolutionarily conserved segment on either porcine chromosome 4 (SSC4) or 14 (SSC14). We investigated linkage between OD and SSC4- and 14-specific microsatellite loci in order to map the OD locus. Twenty-seven informative meioses in families from one sire and three dams revealed linkage of od with microsatellites SW857 and S0089, located in the subcentromeric region of SSC14. We isolated part of the GULO gene of the pig by screening a porcine genomic library using a pig GULO cDNA as a probe, and mapped it to SSC14q14 by fluorescence in situ hybridization (FISH). Thus, the porcine GULO gene is both a good physiological and positional candidate gene for vitamin C deficiency in pigs.
authors.affiliation: Department of Animal Science, Swiss Federal Institute of Technology, Zurich, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Hasan
authors.forename: P
authors.initials: P
authors.lastname: Vögeli
authors.forename: S
authors.initials: S
authors.lastname: Neuenschwander
authors.forename: P
authors.initials: P
authors.lastname: Stoll
authors.forename: E
authors.initials: E
authors.lastname: Meijerink
authors.forename: C
authors.initials: C
authors.lastname: Stricker
authors.forename: H
authors.initials: H
authors.lastname: Jörg
authors.forename: G
authors.initials: G
authors.lastname: Stranzinger
mesh_terms: D000818:Animals; D001206:Ascorbic Acid Deficiency / Q000201:enzymology / Q000235:genetics / Q000662:veterinary*; D001483:Base Sequence; D005075:Biological Evolution; D002874:Chromosome Mapping; D017931:DNA Primers / Q000235:genetics; D008040:Genetic Linkage; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D050544:L-Gulonolactone Oxidase; D018895:Microsatellite Repeats; D013401:Sugar Alcohol Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D013552:Swine / Q000235:genetics* / Q000378:metabolism*; D013553:Swine Diseases / Q000201:enzymology* / Q000235:genetics*
chemical_list: D017931:DNA Primers; D013401:Sugar Alcohol Dehydrogenases; D050544:L-Gulonolactone Oxidase