Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome.
Nerve growth factor receptor p75 (NGFR) gene was investigated as a potential candidate gene in Meckel syndrome (MKS) because of its important role in embryonic development, chromosomal localization adjacent to the MKS locus and Meckel syndrome-resembling findings in knock-out mice phenotype. The sequence analysis of the coding region of the gene revealed one polymorphism but no potential disease mutation. Physical mapping of the critical chromosomal region finally showed that the NGFR gene lies outside the MKS locus.
Wartiovaara
K
K
Institute of Biotechnology, University of Helsinki, Finland. Kirmo.Wartiovaara@helsinki.fi
Paavola
P
P
Suvanto
P
P
Paulin
L
L
Saarma
M
M
Peltonen
L
L
Sariola
H
H
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D004677:Encephalocele / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000235:genetics; D017689:Polydactyly / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020800:Receptor, Nerve Growth Factor; D017475:Receptors, Nerve Growth Factor / Q000235:genetics*; D013577:Syndrome
D017931:DNA Primers; D005819:Genetic Markers; D020800:Receptor, Nerve Growth Factor; D017475:Receptors, Nerve Growth Factor