The Experts below are selected from a list of 186 Experts worldwide ranked by ideXlab platform
Andrew H. Crosby - One of the best experts on this subject based on the ideXlab platform.
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A mutation in NFκB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford Cattle.
Animal genetics, 2008Co-Authors: Michael A. Simpson, R W Cook, P Solanki, Michael A. Patton, J A Dennis, Andrew H. CrosbyAbstract:Cardiomyopathy and woolly haircoat syndrome (CWH) of Poll Hereford Cattle is a lethal, autosomal recessive disorder. Cardiac and haircoat changes are congenital, neonatal ocular keratitis develops in some cases and death usually occurs within the first 12 weeks of life. We undertook a homozygosity mapping approach to identify the chromosomal location of the causative gene. Seven candidate genes were examined for homozygosity in affected animals: desmoplakin and junction plakoglobin (both previously implicated in human cardiocutaneous syndromes), desmocollin 2, desmoglein 2, plakophilin 2, nuclear factor kappa B (NFKB1) and NFkappaB interacting protein 1 (PPP1R13L, also known as NKIP1). Homozygosity in 13 affected animals was observed at the PPP1R13L locus, located on bovine chromosome 18. Subsequent sequence analysis revealed a 7-bp duplication (c.956_962dup7) in exon 6 of this 13-exon gene. This frameshift variant is predicted to result in the substitution of three amino acids and the introduction of a premature stop codon at position 325 of the protein product (p.Ser322GlnfsX4). PPP1R13L interacts with NFkappaB, a family of structurally related transcription factors that regulate genes controlling inflammation, immune responses and cell proliferation and survival. CWH represents a large-animal model for cardiocutaneous disorders caused by a mutation in the PPP1R13L gene. The identification of this bovine mutation also indicates that PPP1R13L and other genes affecting NFkappaB activity may be candidate genes in the study of human cardiovascular disease.
Tim M Strom - One of the best experts on this subject based on the ideXlab platform.
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whole genome sequencing of a single bos taurus animal for single nucleotide polymorphism discovery
Genome Biology, 2009Co-Authors: Sebastian H Eck, Anna Benetpages, Krzysztof Flisikowski, Thomas Meitinger, Ruedi Fries, Tim M StromAbstract:Background The majority of the 2 million bovine single nucleotide polymorphisms (SNPs) currently available in dbSNP have been identified in a single breed, Hereford Cattle, during the bovine genome project. In an attempt to evaluate the variance of a second breed, we have produced a whole genome sequence at low coverage of a single Fleckvieh bull.
Michael A. Simpson - One of the best experts on this subject based on the ideXlab platform.
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A mutation in NFκB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford Cattle.
Animal genetics, 2008Co-Authors: Michael A. Simpson, R W Cook, P Solanki, Michael A. Patton, J A Dennis, Andrew H. CrosbyAbstract:Cardiomyopathy and woolly haircoat syndrome (CWH) of Poll Hereford Cattle is a lethal, autosomal recessive disorder. Cardiac and haircoat changes are congenital, neonatal ocular keratitis develops in some cases and death usually occurs within the first 12 weeks of life. We undertook a homozygosity mapping approach to identify the chromosomal location of the causative gene. Seven candidate genes were examined for homozygosity in affected animals: desmoplakin and junction plakoglobin (both previously implicated in human cardiocutaneous syndromes), desmocollin 2, desmoglein 2, plakophilin 2, nuclear factor kappa B (NFKB1) and NFkappaB interacting protein 1 (PPP1R13L, also known as NKIP1). Homozygosity in 13 affected animals was observed at the PPP1R13L locus, located on bovine chromosome 18. Subsequent sequence analysis revealed a 7-bp duplication (c.956_962dup7) in exon 6 of this 13-exon gene. This frameshift variant is predicted to result in the substitution of three amino acids and the introduction of a premature stop codon at position 325 of the protein product (p.Ser322GlnfsX4). PPP1R13L interacts with NFkappaB, a family of structurally related transcription factors that regulate genes controlling inflammation, immune responses and cell proliferation and survival. CWH represents a large-animal model for cardiocutaneous disorders caused by a mutation in the PPP1R13L gene. The identification of this bovine mutation also indicates that PPP1R13L and other genes affecting NFkappaB activity may be candidate genes in the study of human cardiovascular disease.
L.a. Jackson - One of the best experts on this subject based on the ideXlab platform.
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Effect of salivary gland extracts from the tick, Boophilus microplus, on leucocytes from Brahman and Hereford Cattle.
Parasite immunology, 2002Co-Authors: Cornelia Turni, Rogan P. Lee, L.a. JacksonAbstract:The effect of salivary gland extract (SGE) from Boophilus microplus on peripheral blood lymphocytes, neutrophils and monocytes from Brahman (Bos indicus) and Hereford (Bos taurus) Cattle was investigated. SGE (8 micro g) significantly inhibited the proliferation response of lymphocytes to concanavalin A from both Brahman and Hereford Cattle by 89% and 41%, respectively. The difference in inhibition between the two breeds was highly significant (P < 0.01), whilst at 1 micro g of SGE, significant inhibition of lymphocytes occurred only in Hereford Cattle (34%). Flow cytometric analysis of monocytes and neutrophils showed that SGE (40 micro g) significantly reduced both the proportion of cells actively phagocytosing Escherichia coli labelled with fluorescein isothiocyanate (E. coli-FITC) and the uptake of E. coli-FITC in Brahman Cattle. However, in Hereford Cattle, a significant depression in uptake was only observed in neutrophils. The proportion of monocytes and neutrophils with oxidative activity was significantly suppressed in the presence of SGE in both breeds of Cattle. These results indicate that peripheral blood leucocytes from different breeds of Cattle respond differently to SGE.
J A Dennis - One of the best experts on this subject based on the ideXlab platform.
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A mutation in NFκB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford Cattle.
Animal genetics, 2008Co-Authors: Michael A. Simpson, R W Cook, P Solanki, Michael A. Patton, J A Dennis, Andrew H. CrosbyAbstract:Cardiomyopathy and woolly haircoat syndrome (CWH) of Poll Hereford Cattle is a lethal, autosomal recessive disorder. Cardiac and haircoat changes are congenital, neonatal ocular keratitis develops in some cases and death usually occurs within the first 12 weeks of life. We undertook a homozygosity mapping approach to identify the chromosomal location of the causative gene. Seven candidate genes were examined for homozygosity in affected animals: desmoplakin and junction plakoglobin (both previously implicated in human cardiocutaneous syndromes), desmocollin 2, desmoglein 2, plakophilin 2, nuclear factor kappa B (NFKB1) and NFkappaB interacting protein 1 (PPP1R13L, also known as NKIP1). Homozygosity in 13 affected animals was observed at the PPP1R13L locus, located on bovine chromosome 18. Subsequent sequence analysis revealed a 7-bp duplication (c.956_962dup7) in exon 6 of this 13-exon gene. This frameshift variant is predicted to result in the substitution of three amino acids and the introduction of a premature stop codon at position 325 of the protein product (p.Ser322GlnfsX4). PPP1R13L interacts with NFkappaB, a family of structurally related transcription factors that regulate genes controlling inflammation, immune responses and cell proliferation and survival. CWH represents a large-animal model for cardiocutaneous disorders caused by a mutation in the PPP1R13L gene. The identification of this bovine mutation also indicates that PPP1R13L and other genes affecting NFkappaB activity may be candidate genes in the study of human cardiovascular disease.