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

Study of deposition parameters for the fabrication of ZnO thin films using femtosecond laser

Femtosecond (fs) pulsed laser deposition (fs-PLD) of ZnO thin film on borosilicate glass substrates is reported in this work. The effect of important fs-PLD parameters such as target–substrate distance, laser pulse energy and substrate temperature on structure, morphology, optical transparency and luminescence of as-deposited films is discussed. XRD analysis reveals that all the films grown using the laser energy range 120–230 μJ are polycrystalline when they are deposited at room temperature in a ~10−5 Torr vacuum. Introducing 0.7 mTorr oxygen pressure, the films show preferred c-axis growth and transform into a single-crystal-like film when the substrate temperature is increased to 100 °C. The scanning electron micrographs show the presence of small nano-size grains at 25 °C, which grow in size to the regular hexagonal shape particles at 100 °C. Optical transmission of the ZnO film is found to increase with an increase in crystal quality. Maximum transmittance of 95 % in the wavelength range 400–1400 nm is achieved for films deposited at 100 °C employing a laser pulse energy of 180 μJ. The luminescence spectra show a strong UV emission band peaked at 377 nm close to the ZnO band gap. The shallow donor defects increase at higher pulse energies and higher substrate temperatures, which give rise to violet-blue luminescence. The results indicate that nano-crystalline ZnO thin films with high crystalline quality and optical transparency can be fabricated by using pulses from fs lasers

Evolutionary developmental transcriptomics reveals a gene network module regulating interspecific diversity in plant leaf shape

Despite a long-standing interest in the genetic basis of morphological diversity, the molecular mechanisms that give rise to developmental variation are incompletely understood. Here, we use comparative transcriptomics coupled with the construction of gene coexpression networks to predict a gene regulatory network (GRN) for leaf development in tomato and two related wild species with strikingly different leaf morphologies. The core network in the leaf developmental GRN contains regulators of leaf morphology that function in global cell proliferation with peripheral gene network modules (GNMs). The BLADE-ON-PETIOLE (BOP) transcription factor in one GNM controls the core network by altering effective concentration of the KNOTTED-like HOMEOBOX gene product. Comparative network analysis and experimental perturbations of BOP levels suggest that variation in BOP expression could explain the diversity in leaf complexity among these species through dynamic rewiring of interactions in the GRN. The peripheral location of the BOP-containing GNM in the leaf developmental GRN and the phenotypic mimics of evolutionary diversity caused by alteration in BOP levels identify a key role for this GNM in canalizing the leaf morphospace by modifying the maturation schedule of leaves to create morphological diversity

A Comprehensive Linkage Map of the Dog Genome

We have leveraged the reference sequence of a boxer to construct the first complete linkage map for the domestic dog. The new map improves access to the dog's unique biology, from human disease counterparts to fascinating evolutionary adaptations. The map was constructed with ∼3000 microsatellite markers developed from the reference sequence. Familial resources afforded 450 mostly phase-known meioses for map assembly. The genotype data supported a framework map with ∼1500 loci. An additional ∼1500 markers served as map validators, contributing modestly to estimates of recombination rate but supporting the framework content. Data from ∼22,000 SNPs informing on a subset of meioses supported map integrity. The sex-averaged map extended 21 M and revealed marked region- and sex-specific differences in recombination rate. The map will enable empiric coverage estimates and multipoint linkage analysis. Knowledge of the variation in recombination rate will also inform on genomewide patterns of linkage disequilibrium (LD), and thus benefit association, selective sweep, and phylogenetic mapping approaches. The computational and wet-bench strategies can be applied to the reference genome of any nonmodel organism to assemble a de novo linkage map

The First-Generation Whole-Genome Radiation Hybrid Map in the Horse Identifies Conserved Segments in Human and Mouse Genomes

A first-generation radiation hybrid (RH) map of the equine (Equus caballus) genome was assembled using 92 horse × hamster hybrid cell lines and 730 equine markers. The map is the first comprehensive framework map of the horse that (1) incorporates type I as well as type II markers, (2) integrates synteny, cytogenetic, and meiotic maps into a consensus map, and (3) provides the most detailed genome-wide information to date on the organization and comparative status of the equine genome. The 730 loci (258 type I and 472 type II) included in the final map are clustered in 101 RH groups distributed over all equine autosomes and the X chromosome. The overall marker retention frequency in the panel is ∼21%, and the possibility of adding any new marker to the map is ∼90%. On average, the mapped markers are distributed every 19 cR (4 Mb) of the equine genome—a significant improvement in resolution over previous maps. With 69 new FISH assignments, a total of 253 cytogenetically mapped loci physically anchor the RH map to various chromosomal segments. Synteny assignments of 39 gene loci complemented the RH mapping of 27 genes. The results added 12 new loci to the horse gene map. Lastly, comparison of the assembly of 447 equine genes (256 linearly ordered RH-mapped and additional 191 FISH-mapped) with the location of draft sequences of their human and mouse orthologs provides the most extensive horse–human and horse–mouse comparative map to date. We expect that the foundation established through this map will significantly facilitate rapid targeted expansion of the horse gene map and consequently, mapping and positional cloning of genes governing traits significant to the equine industry. [Supplemental material is available online at www.genome.org. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: R. Brandon, G. Lindgren, and I. Tammen.