Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep Chromosome 5

Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance. Two affected homozygous recessive (art/art) Suffolk rams were used as founders for...

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Vydané v:Mammalian genome Ročník 18; číslo 1; s. 43 - 52
Hlavní autori: Murphy, Angela M., MacHugh, David E., Park, Stephen D.E., Scraggs, Erik, Haley, Chris S., Lynn, David J., Boland, Maurice P., Doherty, Michael L.
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: United States Springer Nature B.V 01.01.2007
Predmet:
Animals
Animals, Newborn
Arthrogryposis - genetics
Arthrogryposis - veterinary
autosomes
backcrossing
Base Sequence
Cattle
Chromosome Mapping
congenital abnormalities
Crosses, Genetic
DNA Primers - genetics
Female
genes
Genes, Recessive
genetic markers
homozygosity
Humans
Infant, Newborn
loci
Male
Microsatellite Repeats
neonates
Pedigree
rams
Sheep - genetics
Sheep Diseases - genetics
surveys
ISSN:0938-8990, 1432-1777
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Popis
Shrnutí:Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance. Two affected homozygous recessive (art/art) Suffolk rams were used as founders for a backcross pedigree of half-sib families segregating the IOA trait. A genome scan was performed using 187 microsatellite genetic markers and all backcross animals were phenotyped at birth for the presence and severity of arthrogryposis. Pairwise LOD scores of 1.86, 1.35, and 1.32 were detected for three microsatellites, BM741, JAZ, and RM006, that are located on sheep Chr 5 (OAR5). Additional markers in the region were identified from the genetic linkage map of BTA7 and by in silico analyses of the draft bovine genome sequence, three of which were informative. Interval mapping of all autosomes produced an F value of 21.97 (p < 0.01) for a causative locus in the region of OAR5 previously flagged by pairwise linkage analysis. Inspection of the orthologous region of HSA5 highlighted a previously fine-mapped locus for human arthrogryposis multiplex congenita neurogenic type (AMCN). A survey of the HSA5 genome sequence identified plausible candidate genes for both IOA and human AMCN.
Bibliografia:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0938-8990
1432-1777
DOI:10.1007/s00335-006-0016-8