title: Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
abstract: A locus for autosomal recessive nemaline myopathy (NEM2) has been assigned by linkage analysis to a 13-cM region between the markers D2S150 and D2S142 on 2q21.2-q22. The genes for the giant muscle proteins nebulin and titin have previously been assigned by FISH to 2q24.1-q24.2 and 2q31, respectively. By using radiation hybrid mapping, we have reassigned the nebulin gene close to the microsatellite marker D2S2236 on 2q22 and the titin gene to the vicinity of the markers D2S384 and D2S364 on 2q24.3. The genomic orientation of the nebulin gene was determined as 5'-3' and of TTN as 3'-5' from the centromere. We conclude that the nebulin gene resides within the candidate region for NEM2 on the long arm of chromosome 2, while the titin gene is located outside this region.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: K
authors.initials: K
authors.lastname: Pelin
authors.forename: M
authors.initials: M
authors.lastname: Ridanpää
authors.forename: K
authors.initials: K
authors.lastname: Donner
authors.forename: S
authors.initials: S
authors.lastname: Wilton
authors.forename: J
authors.initials: J
authors.lastname: Krishnarajah
authors.forename: N
authors.initials: N
authors.lastname: Laing
authors.forename: B
authors.initials: B
authors.lastname: Kolmerer
authors.forename: S
authors.initials: S
authors.lastname: Millevoi
authors.forename: S
authors.initials: S
authors.lastname: Labeit
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: C
authors.initials: C
authors.lastname: Wallgren-Petterson
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D064211:Connectin; D005808:Genes, Recessive; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*
chemical_list: D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; C035620:nebulin; D011494:Protein Kinases