PMID- 10467707
OWN - NLM
STAT- MEDLINE
DCOM- 19991004
LR  - 20190915
IS  - 0268-9146 (Print)
IS  - 0268-9146 (Linking)
VI  - 30
IP  - 4
DP  - 1999 Aug
TI  - The L-gulono-gamma-lactone oxidase gene (GULO) which is a candidate for vitamin C 
      deficiency in pigs maps to chromosome 14.
PG  - 309-12
AB  - 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.
FAU - Hasan, L
AU  - Hasan L
AD  - Department of Animal Science, Swiss Federal Institute of Technology, Zurich, 
      Switzerland.
FAU - Vogeli, P
AU  - Vogeli P
FAU - Neuenschwander, S
AU  - Neuenschwander S
FAU - Stoll, P
AU  - Stoll P
FAU - Meijerink, E
AU  - Meijerink E
FAU - Stricker, C
AU  - Stricker C
FAU - Jorg, H
AU  - Jorg H
FAU - Stranzinger, G
AU  - Stranzinger G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Anim Genet
JT  - Animal genetics
JID - 8605704
RN  - 0 (DNA Primers)
RN  - EC 1.1.- (Sugar Alcohol Dehydrogenases)
RN  - EC 1.1.3.8 (L-Gulonolactone Oxidase)
SB  - IM
MH  - Animals
MH  - Ascorbic Acid Deficiency/enzymology/genetics/*veterinary
MH  - Base Sequence
MH  - Biological Evolution
MH  - Chromosome Mapping
MH  - DNA Primers/genetics
MH  - Genetic Linkage
MH  - Genomic Library
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - L-Gulonolactone Oxidase
MH  - Microsatellite Repeats
MH  - Sugar Alcohol Dehydrogenases/*deficiency/*genetics
MH  - Swine/*genetics/*metabolism
MH  - Swine Diseases/*enzymology/*genetics
EDAT- 1999/09/01 00:00
MHDA- 1999/09/01 00:01
CRDT- 1999/09/01 00:00
PHST- 1999/09/01 00:00 [pubmed]
PHST- 1999/09/01 00:01 [medline]
PHST- 1999/09/01 00:00 [entrez]
AID - 10.1046/j.1365-2052.1999.00481.x [doi]
PST - ppublish
SO  - Anim Genet. 1999 Aug;30(4):309-12. doi: 10.1046/j.1365-2052.1999.00481.x.