A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.

One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts. A genome-wide case - control association study was conducted using 9 curly coated Selkirk Rex and 29 controls, including straight-coated Selkirk Rex, British Shorthair and Persian, to localize the Selkirk autosomal dominant rexoid locus (SADRE). Although the control cats were from different breed lineages, they share recent breeding histories and were validated as controls by Bayesian clustering, multi-dimensional scaling and genomic inflation. A significant association was found on cat chromosome B4 (Praw = 2.87 × 10(-11)), and a unique haplotype spanning ~600 Kb was found in all the curly coated cats. Direct sequencing of four candidate genes revealed a splice site variant within the KRT71 gene associated with the hair abnormality in Selkirk Rex

Aristaless-like homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats

AbstractFrontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. In particular, a lineage of Burmese cats with severe brachycephyla is extremely popular and is termed Contemporary Burmese. Genetic studies demonstrated that the brachycephyla of the Contemporary Burmese is a simple co-dominant trait, however, the homozygous cats have a severe craniofacial defect that is incompatible with life. The craniofacial defect of the Burmese was genetically analyzed over a 20 year period, using various genetic analysis techniques. Family-based linkage analysis localized the trait to cat chromosome B4. Genome-wide association studies and other genetic analyses of SNP data refined a critical region. Sequence analysis identified a 12bp in frame deletion in ALX1, c.496delCTCTCAGGACTG, which is 100% concordant with the craniofacial defect and not found in cats not related to the Contemporary Burmese

Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) mutations associated with the domestic cat AB blood group

<p>Abstract</p> <p>Background</p> <p>The cat has one common blood group with two major serotypes, blood type A that is dominant to type B. A rare type AB may also be allelic and is suspected to be recessive to A and dominant to B. Cat blood type antigens are defined, N-glycolylneuraminic acid (NeuGc) is associated with type A and N-acetylneuraminic acid (NeuAc) with type B. The enzyme <it>cytidine monophospho-N-acetylneuraminic acid hydroxylase </it>(<it>CMAH</it>) determines the sugar bound to the red cell by converting NeuAc to NeuGc. Thus, mutations in <it>CMAH </it>may cause the A and B blood types.</p> <p>Results</p> <p>Genomic sequence of <it>CMAH </it>from eight cats and the cDNA of four cats representing all blood types were analyzed to identify causative mutations. DNA variants consistent with the blood types were genotyped in over 200 cats. Five SNPs and an indel formed haplotypes that were consistent with each blood type.</p> <p>Conclusion</p> <p>Mutations in type B cats likely disrupt the gene function of <it>CMAH</it>, leading to a predominance of NeuAc. Type AB concordant variants were not identified, however, cDNA species suggest an alternative allele that activates a downstream start site, leading to a CMAH protein that would be altered at the 5' region. The cat AB blood group system is proposed to be designated by three alleles, <it>A </it>> <it>a</it>^{<it>ab </it>}> <it>b</it>. The <it>A </it>and <it>b CMAH </it>alleles described herein can distinguish type A and type B cats without blood sample collections. <it>CMAH </it>represents the first blood group gene identified outside of non-human primates and humans.</p

The Vehicle, June 1959, Vol. 1 no. 3

Vol. 1, No. 3 Table of Contents FrustrationNeil Parkerpage 3 Public FigureBert Browderpage 8 To a Young LadyNeil Parkerpage 8 Eastern -- YesterdayLinda Lyonspage 9 Glosing Won\u27t ServeD.E. Fullerpage 10 D. Linkwant at the BarD. Linkwantpage 10 The Wedgewood CupBarbara Wilson Dautpage 11 The SymptomsBert Browderpage 14 On a Charge for Over-DrawingD.E. Fullerpage 14 Information, PleaseD.E. Fullerpage 14 Query from Row Two, Seat ThreeHunkelheimerpage 15 DeceptionBarbara Wilson Dautpage 15 Binge in Mind?Anon.page 15 A CommaJean Nightingalepage 16 Miss Me, Kate!A.B. Carterpage 16 My SinsJean Nightingalepage 16https://thekeep.eiu.edu/vehicle/1002/thumbnail.jp

The Vehicle, June 1959, Vol. 1 no. 3

Vol. 1, No. 3 Table of Contents FrustrationNeil Parkerpage 3 Public FigureBert Browderpage 8 To a Young LadyNeil Parkerpage 8 Eastern -- YesterdayLinda Lyonspage 9 Glosing Won\u27t ServeD.E. Fullerpage 10 D. Linkwant at the BarD. Linkwantpage 10 The Wedgewood CupBarbara Wilson Dautpage 11 The SymptomsBert Browderpage 14 On a Charge for Over-DrawingD.E. Fullerpage 14 Information, PleaseD.E. Fullerpage 14 Query from Row Two, Seat ThreeHunkelheimerpage 15 DeceptionBarbara Wilson Dautpage 15 Binge in Mind?Anon.page 15 A CommaJean Nightingalepage 16 Miss Me, Kate!A.B. Carterpage 16 My SinsJean Nightingalepage 16https://thekeep.eiu.edu/vehicle/1002/thumbnail.jp

Addressing nutrient shortfalls in 1- to 5-year-old Irish children using diet modeling: development of a protocol for use in country-specific population health

BACKGROUND: Dietary habits formed in early childhood can track into later life with important impacts on health. Food-based dietary guidelines (FBDGs) may have a role in improving population health but are lacking for young children. OBJECTIVES: We aimed to establish a protocol for addressing nutrient shortfalls in 1- to 5-y-old children (12–60 mo) using diet modeling in a population-based sample. METHODS: Secondary analysis of 2010–2011 Irish National Pre-School Nutrition Survey data (n = 500) was conducted to identify typical food consumption patterns in 1- to 5-y-olds. Nutrient intakes were assessed against dietary reference values [European Food Safety Authority (EFSA) and Institute of Medicine (IOM)]. To address nutrient shortfalls using diet modeling, 4-d food patterns were developed to assess different milk-feeding scenarios (human milk, whole or low-fat cow milk, and fortified milks) within energy requirement ranges aligned with the WHO growth standards. FBDGs to address nutrient shortfalls were established based on 120 food patterns. RESULTS: Current mean dietary intakes for the majority of 1- to 5-y-olds failed to meet reference values (EFSA) for vitamin D (≤100%), vitamin E (≤88%), DHA (22:6n–3) + EPA (20:5n–3) (IOM; ≤82%), and fiber (≤63%), whereas free sugars intakes exceeded recommendations of <10% energy (E) for 48% of 1- to 3-y-olds and 75% of 4- to 5-y-olds. “Human milk + Cow milk” was the only milk-feeding scenario modeled that predicted sufficient DHA + EPA among 1- to 3-y-olds. Vitamin D shortfalls were not correctable in any milk-feeding scenario, even with supplementation (5 µg/d), apart from the “Follow-up Formula + Fortified drink” scenario in 1- to 3-y-olds (albeit free sugars intakes were estimated at 12%E compared with ≤5%E as provided by other scenarios). Iron and vitamin E shortfalls were most prevalent in scenarios for 1- to 3-y-olds at ≤25(th) growth percentile. CONCLUSIONS: Using WHO growth standards and international reference values, this study provides a protocol for addressing nutrient shortfalls among 1- to 5-y-olds, which could be applied in country-specific population health