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Meryl P. Littman Claire A. Wiley Michael G. Raducha Paula S. Henthorn 《Mammalian genome》2013,24(3-4):119-126
Dogs of the soft-coated wheaten terrier breed (SCWT) are predisposed to adult-onset, genetically complex, protein-losing nephropathy (average onset age = 6.3 ± 2.0 years). A genome-wide association study using 62 dogs revealed a chromosomal region containing three statistically significant SNPs (p raw ≤ 4.13 × 10?8; p genome ≤ 0.005) when comparing DNA samples from affected and geriatric (≥14 years) unaffected SCWTs. Sequencing of candidate genes in the region revealed single nucleotide changes in each of two closely linked genes, NPHS1 and KIRREL2, which encode the slit diaphragm proteins nephrin and Neph3/filtrin, respectively. In humans, mutations in nephrin and decreased expression of Neph3 are associated with podocytopathy and protein-losing nephropathy. The base substitutions change a glycine to arginine in the fibronectin type 3 domain of nephrin and a proline to arginine in a conserved proline-rich region in Neph3. These novel mutations are not described in other species, nor were they found in 550 dogs of 105 other breeds, except in 3 dogs, including an affected Airedale terrier, homozygous for both substitutions. Risk for nephropathy is highest in dogs homozygous for the mutations (OR = 9.06; 95 % CI = 4.24–19.35). This is the first molecular characterization of an inherited podocytopathy in dogs and may serve as a model for continued studies of complex genetic and environmental interactions in glomerular disease. 相似文献
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Ricardo Guerra Peixe Marcela Santana Bastos Boechat Alba Lucinia Peixoto Rangel Rh?nia Fran?a Gomes Rosa Maria Luiza Petzl-Erler Lilian MG Bahia-Oliveira 《Memórias do Instituto Oswaldo Cruz》2014,109(1):99-107
The association of single nucleotide polymorphisms (SNPs) in the interferon (IFN)-γ
gene ( IFNG ) with different types of retinal scar lesions
presumably caused by toxoplasmosis were investigated in a cross-sectional
population-based genetic study. Ten SNPs were investigated and after Bonferroni
correction, only the associations between SNPs rs2069718 and
rs3181035 with retinal/retinochoroidal scar lesions type A (most
severe scar lesions) and C (least severe scar lesions), respectively, remained
significant. The associations of two different IFNG SNPs with two
different types of retinal lesions attributable to toxoplasmosis support the
hypothesis that different inflammatory mechanisms underlie the development of these
lesions. The in vitro analysis of IFN-γ secretion by peripheral blood mononuclear
cells stimulated with Toxoplasma gondii antigens was also
investigated. The association between SNP rs2069718 and type A scar
lesions revealed that differential IFN-γ levels are correlated with distinct
genotypes. However, no correlation was observed with IFN-γ secretion levels and the
SNP rs3181035 , which was significantly associated with type C scar
lesions. Our findings strongly suggest that immunogenetic studies of individuals with
congenital or postnatally acquired infection are needed to better understand the role
of IFN-γ and its polymorphisms in the pathogenesis of ocular toxoplasmosis. 相似文献
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P Werner M G Raducha U Prociuk M Budarf P S Henthorn D F Patterson 《The Journal of heredity》1999,90(4):494-498
Conotruncal defects (CTDs) of the heart are a frequent component of DiGeorge, velocardiofacial, or other syndromes caused by deletions of the human chromosome 22q11 region (HSA22q11). In addition, some human patients with isolated nonsyndromic CTDs have been reported to have deletions of this region. Taken together, these findings lead to the conclusion that deletions of an HSA22q11 locus or loci produce abnormalities in cardiac development leading to CTDs. A spontaneous model of isolated inherited conotruncal malformations occurs in the keeshond dog. We have previously shown in experimental matings that nonsyndromic CTDs in the keeshond are inherited in a manner consistent with a major underlying locus. In the studies described in this article we tested two hypotheses: (1) the region of HSA22q11 commonly deleted in DiGeorge and related syndromes is evolutionarily conserved in the dog, and (2) a locus in this region is linked to hereditary CTD in the keeshond. Two loci within the minimal DiGeorge critical region (MDGCR) and two loci that lie telomeric to the MDGCR, one of which is commonly deleted in DiGeorge patients, were mapped in the dog using a combination of linkage analysis and fluorescence in situ hybridization (FISH). The results confirm conserved synteny of the loci DGS-I, CTP, D22S788 (N41), and IGLC on the telomeric end of canine chromosome 26 (CFA26). The group of four syntenic gene loci, which spans a genetic distance of 2.5 cM is the first to be mapped to this small acrocentric canine chromosome and adds gene-associated polymorphic markers to the developing dog linkage map. Linkage of loci in this region to hereditary CTD in the keeshond was excluded. 相似文献
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P S Henthorn M Raducha T Kadesch M J Weiss H Harris 《The Journal of biological chemistry》1988,263(24):12011-12019
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Tiana Baqueiro Momtchilo Russo Virgínia MG Silva Thayna Meirelles Pablo RS Oliveira Eliane Gomes Renato Barboza Ana T Cerqueira-Lima Camila A Figueiredo Lain Pontes-de-Carvalho Neuza M Alcantara-Neves 《Respiratory research》2010,11(1):51