The Experts below are selected from a list of 318 Experts worldwide ranked by ideXlab platform
E M Sankila - One of the best experts on this subject based on the ideXlab platform.
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a sequence ready map of the usher syndrome type iii critical region on Chromosome 3q
Genomics, 2000Co-Authors: Tarja Joensuu, Riikka H Hamalainen, Annaelina Lehesjoki, Albert De La Chapelle, E M SankilaAbstract:Usher syndrome type 3 (USH3; MIM 276902) is an autosomal recessive disorder associated with progressive hearing loss and retinal degeneration. We recently refined the localization of USH3 to a 1-cM genetic interval between markers D3S1299 and D3S3625. We have now constructed a bacterial artificial Chromosome contig over the region. Novel polymorphic markers were generated and physically fine-mapped, allowing further narrowing of the critical interval to a 250-kb genomic fragment. Of seven ESTs mapping to the initial critical region, WI-11588 and SHGC-133 represent the human SIAH2 gene, which was excluded as a candidate for USH3 by sequencing and subsequently, by its position. KIAA0001 and D3S3882 derive from the transcript of a putative G-protein-coupled receptor gene that was excluded as a candidate by sequencing of patient DNA. These data provide a basis for the sequencing and final characterization of the USH3 region and isolation of the disease gene.
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assignment of an usher syndrome type iii ush3 gene to Chromosome 3q
Human Molecular Genetics, 1995Co-Authors: E M Sankila, Leenamaija Pakarinen, Helena Kaariainen, Kristiina Aittomaki, S Karjalainen, Pertti Sistonen, De La Chapelle AAbstract:Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to severe, and the vestibular function is normal. Progressive pigmentary retinopathy (PPR) is present in both types. A third type (USH3) differing from USH2 by the progressive nature of its hearing loss has been suggested. USH3 has previously been estimated to comprise 2% of all USH. However, based on clinical criteria, in Finland 42% of USH patients have progressive hearing loss suggesting enrichment of an USH3 gene. We excluded the four previously mapped USH regions as the site of the USH3 disease locus. Systematic search for USH3 by genetic linkage analyses in 10 multiple affected families using polymorphic microsatellite markers revealed significant linkage with markers mapping to Chromosome 3q. Pairwise lod scores at zero recombination distance were 7.87 for D3S1308, and 11.29 for D3S1299, incorporating the observed linkage disequilibrium. Conventional multipoint linkage analysis gave a maximum lod score of 9.88 at D3S1299 assigning USH3 to the 5 cM interval between markers D3S1555 and D3S1279 in 3q21-25. A haplotype comprising alleles at five marker loci was shared by 12 of 20 parental disease Chromosomes but was seen in only one Chromosome not associated with the disease. Based on the haplotype analysis and previous linkage data, the diagnosis in one family previously designated as USH3 was suggested to be USH2. These findings prove the existence of USH3 as a distinct entity, pinpoint a fifth USH locus, and suggest enrichment of a major mutation in the isolated Finnish population
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the existence of usher syndrome type iii proven by assignment of its locus to Chromosome 3q by linkage
American Journal of Human Genetics, 1994Co-Authors: E M Sankila, K Aittomaeki, H KaeaeriaeinenAbstract:Usher syndromes (USH) are genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Usher syndrome type III (USH3) is characterized by progressive bilateral sensorineural deafness and progressive pigmentary retinopathy leading to blindness. USH3 has been conservatively estimated to comprise 2% of the three clinical USH types, and its existence has even been questioned. However, based on clinical criteria, in Finland 42% of USH patients have USH3 suggesting gene enrichment by a founder effect. Genes whose defects cause USH have so far been mapped to four different locations in three Chromosomes. We have excluded the previously mapped USH regions as the site of USH3 disease locus. Systematic search for USH3 by genetic linkage analyses of 11 multiple affected families using highly polymorphic microsatellite markers revealed significant linkage with five markers mapping to Chromosome 3q. Two-point lod scores at zero recombination distance were 5.24 for D3S1308, and 7.71 for D3S1299, respectively. Multipoint linkage analysis gave a maximum lod score of 8.68 at D3S1299 assigning USH3 to the 4 cM interval between markers D3S1555 and D3S1279 in 3q21-25. Of 20 parental disease Chromosomes, 15 had identical alleles at three marker loci covering 3 cM genetic distance and the putativemore » USH3 mutation. These findings prove the existence of USH3 as a distinct entity, pinpoint a fifth USH locus, and suggest enrichment of a major mutation in the isolated Finnish population.« less
Leopoldo Zelante - One of the best experts on this subject based on the ideXlab platform.
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usher syndrome type iii ush3 linked to Chromosome 3q in an italian family
Journal of Medical Genetics, 1998Co-Authors: Paolo Gasparini, A De Fazio, A I Croce, Pietro Stanziale, Leopoldo ZelanteAbstract:We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on Chromosome 3q24-25. Our data further support the presence of an Usher III locus on Chromosome 3, as recently reported in a Finnish population.
De La Chapelle A - One of the best experts on this subject based on the ideXlab platform.
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assignment of an usher syndrome type iii ush3 gene to Chromosome 3q
Human Molecular Genetics, 1995Co-Authors: E M Sankila, Leenamaija Pakarinen, Helena Kaariainen, Kristiina Aittomaki, S Karjalainen, Pertti Sistonen, De La Chapelle AAbstract:Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to severe, and the vestibular function is normal. Progressive pigmentary retinopathy (PPR) is present in both types. A third type (USH3) differing from USH2 by the progressive nature of its hearing loss has been suggested. USH3 has previously been estimated to comprise 2% of all USH. However, based on clinical criteria, in Finland 42% of USH patients have progressive hearing loss suggesting enrichment of an USH3 gene. We excluded the four previously mapped USH regions as the site of the USH3 disease locus. Systematic search for USH3 by genetic linkage analyses in 10 multiple affected families using polymorphic microsatellite markers revealed significant linkage with markers mapping to Chromosome 3q. Pairwise lod scores at zero recombination distance were 7.87 for D3S1308, and 11.29 for D3S1299, incorporating the observed linkage disequilibrium. Conventional multipoint linkage analysis gave a maximum lod score of 9.88 at D3S1299 assigning USH3 to the 5 cM interval between markers D3S1555 and D3S1279 in 3q21-25. A haplotype comprising alleles at five marker loci was shared by 12 of 20 parental disease Chromosomes but was seen in only one Chromosome not associated with the disease. Based on the haplotype analysis and previous linkage data, the diagnosis in one family previously designated as USH3 was suggested to be USH2. These findings prove the existence of USH3 as a distinct entity, pinpoint a fifth USH locus, and suggest enrichment of a major mutation in the isolated Finnish population
H Kaeaeriaeinen - One of the best experts on this subject based on the ideXlab platform.
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the existence of usher syndrome type iii proven by assignment of its locus to Chromosome 3q by linkage
American Journal of Human Genetics, 1994Co-Authors: E M Sankila, K Aittomaeki, H KaeaeriaeinenAbstract:Usher syndromes (USH) are genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Usher syndrome type III (USH3) is characterized by progressive bilateral sensorineural deafness and progressive pigmentary retinopathy leading to blindness. USH3 has been conservatively estimated to comprise 2% of the three clinical USH types, and its existence has even been questioned. However, based on clinical criteria, in Finland 42% of USH patients have USH3 suggesting gene enrichment by a founder effect. Genes whose defects cause USH have so far been mapped to four different locations in three Chromosomes. We have excluded the previously mapped USH regions as the site of USH3 disease locus. Systematic search for USH3 by genetic linkage analyses of 11 multiple affected families using highly polymorphic microsatellite markers revealed significant linkage with five markers mapping to Chromosome 3q. Two-point lod scores at zero recombination distance were 5.24 for D3S1308, and 7.71 for D3S1299, respectively. Multipoint linkage analysis gave a maximum lod score of 8.68 at D3S1299 assigning USH3 to the 4 cM interval between markers D3S1555 and D3S1279 in 3q21-25. Of 20 parental disease Chromosomes, 15 had identical alleles at three marker loci covering 3 cM genetic distance and the putativemore » USH3 mutation. These findings prove the existence of USH3 as a distinct entity, pinpoint a fifth USH locus, and suggest enrichment of a major mutation in the isolated Finnish population.« less
Carol Jones - One of the best experts on this subject based on the ideXlab platform.
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mapping of myf5 c1r myhl tpi1 iapp a2mr and rnr onto sheep Chromosome 3q
Animal Genetics, 2009Co-Authors: T E Broad, D J Burkin, Carol Jones, P E Lewis, H A Ansari, P D PearceAbstract:Summary Five new loci, myogenic factor 5 (MYF5), complement 1 receptor (CIR), myosin-like heavy chain (MYHL), islet amyloid polypeptide (IAPP), and alpha-2-macroglobulin receptor (A2MR), were mapped onto sheep Chromosome 3q by Southern hybridization to a panel of chro-mosomally characterized sheep × hamster cell hybrid lines. The location of the triose phosphate isomerase (TPI1) gene and one of the nucleolar organizer regions (RNR) on sheep 3q was confirmed by Southern analysis. This study provides further evidence for the existence of a large conserved chromosomal segment comprising much of sheep Chromosome 3q, cattle Chromosome 5, and human Chromosome 12. The distal evolutionary breakpoint on human Chromosome 12, producing the chromosomal segment U23 in cattle marked by aldehyde dehydrogenase (ALDH2), also produces a separate segment in sheep. Neither ALDH2 nor pancreatic lipase (PLA2), which is also distally located on human Chromosome 12, were mapped onto sheep Chromosome 3q.
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four human Chromosome 3q and four human Chromosome 21 loci map onto sheep Chromosome 1q
Mammalian Genome, 1995Co-Authors: T E Broad, D J Burkin, Carol Jones, P E Lewis, H A Ansari, P D Pearce, L M Cambridge, D W MaherAbstract:Eight new loci have been assigned to sheep Chromosome (Chr) 1q by use of a chromosomally characterized minipanel of sheep x hamster cell hybrids. Four loci, which have been mapped to the distal region of human Chr 3q, are ceruloplasmin (CP), sucrase isomaltase (SI), glucose transporter 2 (GLUT2), and ectopic viral integration site 1 (EVI1). The other four loci, on human Chr 21, include interferon alpha receptor (IFNAR); interferon inducible protein p78, murine (MX1); collagen type VI, alpha 1 (COL6A1); and S100 protein, beta polypeptide (S100B). All of these loci, except GLUT2 and MX1, have been mapped onto bovine Chr 1 or are syntenic with loci on this Chromosome. The in situ localization of transferrin (TF) to sheep Chr 1q42-q45 confirms our previous assignment of this locus and independently anchors the eight new syntenic loci to sheep Chr 1q.