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This paper investigates the influence of the carbon (C) and nitrogen (N) status on the amino acid profile in tobacco source leaves. Treatments used included growing plants at different light intensities, using an antisense RBCS (small subunit of ribulose-1,5-bisphosphate carboxylase/oxygenase) construct to inhibit Rubisco activity, growing plants on 12 or 0.5 mM nitrate, comparing wild-types with genotypes that have small and large decreases in nitrate reductase (NIA) activity, and sampling plants at different times during the diurnal cycle. This combination of experiments provides information on how amino acid levels respond to several inputs including the C and N status, nitrate, excess light and light–dark transitions. The data set was analysed using principal component analysis, regression analysis and by normalizing the level of each individual amino acid on the total amino acid pool. Most amino acids show a downward trend when the C or the N status is decreased, and rise during day and fall at night during the diurnal cycle. However, individual amino acids often showed deviating responses. Furthermore, no evidence was found for feedback inhibition of minor amino acid synthesis, either within or between pathways, when 18 individual amino acids were supplied to detached leaves. Results indicate that regulation of amino acid metabolism, for example by the C and N status, leads to qualitatively similar responses of many amino acids, but homeostatic mechanisms involving feedback inhibition within or between individual amino acid biosynthesis pathways are not stringent. All of the above inputs affect the level of phenylalanine, an amino acid that is also the substrate for an important sector of secondary metabolism. The levels of glutamate were remarkably constant, indicating that unknown mechanisms stabilize the concentration of this key central amino acid. Analyses of metabolite levels and feeding experiments indicated that 2-oxoglutarate plays an important role in regulating glutamate levels. Glutamate was the most effective inhibitor of NIA activity when 18 individual amino acids were supplied to detached leaves. Feeding glutamate, and other downstream amino acids, led to an increase of glutamine, indicating glutamate exerts feedback regulation on ammonium metabolism. [ABSTRACT FROM AUTHOR]

PstI and TaqI restriction fragment length polymorphism (RFLP) of caprine DRB3.2 revealed three genotypes under each RFLP in Changthangi goat. The genotypic and allelic frequency in PstI RFLP was calculated as 0.07, 0.72 and 0.20 for PP, Pp and pp genotypes and 0.43 and 0.57 for P and p alleles. In TaqI RFLP the frequencies were observed as 0.11, 0.61 and 0.27 for TT, Tt and tt genotypes and 0.41, 0.59 for T and t alleles. Alignment study indicates variability of nucleotides and amino acids between alleles and different breeds of goats. The nucleotide sequences reported in this paper have been submitted to the European Molecular Biology Laboratory GenBank and the accession numbers were , and . A significant affect ( P ≤ 0.05) of MHC .2 PstI polymorphism was found on the first and second year of pashmina production. [ABSTRACT FROM AUTHOR]

The complete primary structure of the constant part of the μ-chain-disease protein, BOT, was established. It includes the whole CH2, CH3 and CH4 domains. Two amino acid changes were found, at positions 309 (Ser ↵ Gly) and 333 (Val ↵ Gly) (GAL numbering). In two additional monoclonal n chains (SCO and CO), the same positions showed an amino acid variability. From these data it may be concluded that four types of μ chains exist in the human: (1) GAL type with Ser-309 and Val-333; (2) OU type with Gly-309 and Val-333; (3) SCO type with Ser-309 and Gly-333; (4) BOT/CO type with Gly-309 and Gly-333. The meaning of this molecular polymorphism is discussed. [ABSTRACT FROM AUTHOR]

Sheep-serum transferrin shows marked polymorphism and more than 20 alleles have been identified although only 4 or 5 of these have a frequency higher than 1%. Each of the alleles has two bands in starch-gel electrophoresis, corresponding to a major and a minor fraction. This paper describes the isolation and partial characterisation of the two fractions from the transferrin of sheep homozygous for Tf B. The purification consisted of: (a) precipitation by ammonium sulphate, (b) chromatography on CM-cellulose and, finally (c) chromatography on DEAE-Sephadex. The purification procedure had no effect on the electrophoretic mobility of the two fractions and they appeared homogeneous by starch-gel and polyamide-gel electrophoresis and by immuno-electrophoresis. The amino-acid compositions of both fractions were very similar and the sequences of the first eight amino-acid residues: Ser-Pro-Glu-Lys-Thr-Val-Arg-Trp-were identical for both bands. These results, and the fact that the two fractions are found in all genetic variants and always have the same relative mobility strongly suggest that the differences do not lie in the polypeptide chain. From the results of hydrolysis by neuraminidase and assay of sialic acid, the major and minor fractions most probably contain two and three sialic acid residues (exclusively N-acetylneuraminic acid) respectively, thus explaining the different electrophoretic mobilities. The sialic-acid content has been calculated on the basis of a molecular weight of 77500 as determined both by low-speed equilibrium ultracentrifugation and by Archibald's method. The following physico-chemical constants have been established: absorption coefficient at 280nm, A1 mg/cm³1 cm = 1.25 ± 0.01 cm² · mg-1; partial specific volume, &vmacr; = 0.734 cm³ · g-1; sedimentation coefficient s20.wo = 5.15 S; refractive-index increment, dn/dc = 0.173 cm³ · g-1. [ABSTRACT FROM AUTHOR]

The ABO blood group is the most important blood group system, and accurate ABO typing is essential for safe transfusion and transplantation. The novel I A i allele showed nucleotide I c.467C > T i and I c.784G > A i substitutions in the background of the I A1.01 i allele, resulting in p.Pro156Leu and p.Asp262Asn amino acid substitutions. The nucleotide polymorphism in Exons 6 and 7 of the novel allele introduced in this study compared to other ABO alleles. [Extracted from the article]

Background: A highly reduced expression of Rh antigens in the erythrocyte membrane is the main feature of Rhmod , an extremely rare phenotype. Mutations within RHAG gene, which encodes RhAG glycoprotein and modulates Rh antigen expression and Rh complex formation, are the molecular events responsible for the Rhmod phenotype. Here we report a clinical, serologic, and molecular study of an Argentinean proband with Rh-deficiency syndrome.Materials and Methods: Rh antigens, RhAG and CD47 glycoproteins were studied by serologic methods in the proband, her parents and sister. Osmotic fragility and viscoelastic parameters were also examined. RHD zygosity was analyzed by RFLP-PCR. RHD, RHCE, and RHAG genes were studied by Sanger sequencing.Results: No Rh antigens were detected in the proband by standard techniques. However, adsorption-elution and anti-RhAG tests showed that the proposita was Rhmod . Reduced expression of CD47, enhanced osmotic fragility, and surface viscosity alterations giving rise to spherocytes were observed in the patient. Sequencing analysis showed that a c.920C>T mutation in RHAG Exon 6 was present in a homozygous state in the proband and in a heterozygous state in the rest of the family. This novel missense mutation caused the p.Ser307Phe amino acid substitution in Transmembrane Segment 10 of the RhAG glycoprotein.Conclusion: This comprehensive study determined the causes of the proband's anemia allowing the diagnosis of Rh-deficiency syndrome. [ABSTRACT FROM AUTHOR]

Background: Due to the unavailability of immunological reagents, the Dombrock blood group is insufficiently explored in African populations and can be a source of alloimmunization. A large study including pygmoid and nonpygmoid ethnic groups from East, Central, and West continental Africa, together with African migrants like Comorians, Afro-Caribbean from Martinique, and Maroons from French Guiana would be helpful to increase transfusion safety.Study Design and Methods: Using genomic DNA extracted from blood samples collected from 336 nonpygmoid and 51 pygmoid Africans as well as 268 samples of African descent, DO coding regions were PCR-amplified and sequenced.Results: DO*A and DO*B alleles were detected in almost all groups, with a clear predominance of DO*B in every cohort tested. DO*JO and DO*HY allele frequencies reached 10% or more in several ethnic groups. DO*B-SH-Gln149Lys, DO*B-Ile5Thr, and DO*DODE variants were identified both in African ethnic groups and outside Africa. Twelve novel variants were characterized on a DO*A or a DO*B background. Five of them were found in both African and migrant cohorts, the others were restricted to either within or outside Africa. No DO*DOYA, DO*DOLG, DO*DOLC, nor DO*DOMR variants were observed. A first phylogenetic tree was proposed including all variant alleles.Conclusion: This study across continental Africa and countries with African migrants provides a useful overview of Dombrock allele diversity and distribution. The identification of 12 new alleles underlines the importance of genotyping for Dombrock alleles, particularly to improve transfusion safety in countries hosting migrant populations of African descent. [ABSTRACT FROM AUTHOR]

Each of the seven mating types of Tetrahymena thermophila is determined by a pair of large genes, MTA and MTB, whose expression peaks at early conjugation. Each protein consists of a mating-type specific domain and a common transmembrane domain. To assess variation in natural populations, regions of both domains from wild isolates expressing mating types V and VII were analyzed. Corresponding regions of amicronucleates incapable of mating also were examined. MTA and MTB showed high haplotype diversity, with greater sequence variation in MTB. Mating type VII was less variable than mating type V, suggesting more recent origin. No polymorphism distinguished between mat1- and mat2-like alleles encoding different arrays of mating types, nor did polymorphisms give evidence of population structure. MTA and MTB variants have different phylogenies, suggesting independent rather than concerted evolution, and are under weak purifying selection. Codon usage is less biased than for housekeeping genes, and reassigned glutamine encoding stop codons are preferentially used. Amicronucleate T. thermophila and closely related nsp15 and nsp25 have higher levels of nucleotide and amino acid substitution, consistent with cox1 distances. The results suggest that complete sequencing of mating type genes of wild isolates coupled with functional analysis will be informative. [ABSTRACT FROM AUTHOR]

The article focuses on a study regarding genotyping by sequencing is an independent novel RHD variants for an antenatal patient and a blood donor. It mentions the use of single nucleotide polymorphism (SNP)-microarray typing that detect variant RHD genes. It also mentions that RHD 492G variant from the antenatal case is associated with a weak partial D phenotype.

The performance of herbivorous insects is greatly affected by plant nutritional quality and resistance, which are likely to be altered by rising concentrations of atmospheric CO2., We previously reported that elevated CO2 enhanced biological nitrogen (N) fixation of Medicago truncatula, which could result in an increased supply of amino acids to the pea aphid ( Acyrthosiphon pisum). The current study examined the N nutritional quality and aphid resistance of sickle, an ethylene-insensitive mutant of M. truncatula with supernodulation, and its wild-type control A17 under elevated CO2 in open-top field chambers., Regardless of CO2 concentration, growth and amino acid content were greater and aphid resistance was lower in sickle than in A17. Elevated CO2 up-regulated N assimilation and transamination-related enzymes activities and increased phloem amino acids in both genotypes. Furthermore, elevated CO2 down-regulated expression of 1-amino-cyclopropane-carboxylic acid ( ACC), sickle gene ( SKL) and ethylene response transcription factors ( ERF) genes in the ethylene signaling pathway of A17 when infested by aphids and decreased resistance against aphids in terms of lower activities of superoxide dismutase ( SOD), peroxidase ( POD), and polyphenol oxidase ( PPO)., Our results suggest that elevated CO2 suppresses the ethylene signaling pathway in M. truncatula, which results in an increase in plant nutritional quality for aphids and a decrease in plant resistance against aphids. [ABSTRACT FROM AUTHOR]

Background and Objectives D is the most immunogenic blood group antigen. About 1% of whites carry an altered RHD allele leading to quantitative or qualitative changes in the antigen D expression. T201R and F223V encoded by 602C>G and 667T>G are specific amino acid substitutions of the weak D type 4 cluster of African origin, comprising the alleles RHD*09.01, RHD*09.02, RHD*09.03, RHD*09.04 and RHD*09.05. The purpose of this study was to estimate the presence of these RHD genotypes in the Tunisian population. Materials and Methods Ethylenediaminetetraacetate blood samples from 907 D+ and 93 D− blood donors were tested for markers 602G and 667G by allele-specific primer-polymerase chain reaction (PCR-ASP). Samples with positive reactions were re-evaluated by DNA sequencing for RHD and RHCE exons 1-10 and adjacent intronic sequences. Results Among 907 D+ samples, 19 individuals were identified to harbour the RHD*weak partial 4.0 allele. RHCE sequencing post-haplotype-specific extraction ( HSE) revealed an altered RHCE*ce( 48C, 105T, 733G, 744C, 1025T) in those samples. The linkage of the RHCE polymorphisms to one haplotype was proven by DNA sequencing post- HSE. Conclusion The RHD*weak partial 4.0 allele syn. RHD*09.03 was estimated to occur 1 in 47 among D+ Tunisians. There was no evidence for other RHD alleles included in the weak D type 4 cluster. [ABSTRACT FROM AUTHOR]

The C 1 s, N 1 s, and O 1 s core level binding energies (BEs) of the functional groups in amino acids (glycine, aspartic acid, glutamic acid, arginine, and histidine) with varied side-chains and cell-binding RGD-based peptides have been determined and characterized by X-ray photoelectron spectroscopy with a monochromatic Al Kα source. The zwitterionic nature of the amino acids in the solid state is unequivocally evident from the N 1 s signals of the protonated amine groups and the C 1 s signature of carboxylate groups. Significant adventitious carbon contamination is evident for all samples but can be quantitatively accounted for. No intrinsic differences in the XP spectra are evident between two polymorphs (α and γ) of glycine, indicating that the crystallographic differences have a minor influence on the core level BEs for this system. The two nitrogen centers in the imidazole group of histidine exhibit an N 1 s BE shift that is in line with previously reported data for theophylline and aqueous imidazole solutions, while the nitrogen and carbon chemical shifts reflect the unusual guanidinium chemical environment in arginine. It is shown that the complex envelopes of C 1 s and O 1 s photoemission spectra for short-chain peptides can be analyzed quantitatively by reference to the less complex XP spectra of the constituent amino acids, provided the peptides are of high enough purity. The distinctive N 1 s photoemission from the amide linkages provides an indicator of peptide formation even in the presence of common impurities, and variations in the relative intensities of N 1 s were found to be diagnostic for each of the three peptides investigated (RGD, RGDS, and RGDSC). Copyright © 2013 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Background and Objectives Genotyping for human platelet antigen (HPA) systems is required in the investigation of patients with suspected HPA antibodies and for the provision of compatible blood products from HPA-typed donors. Here, we set up a polymerase chain reaction sequence-based typing method for simultaneous genotyping of HPA-1 to 17w (PCR-SBT). Materials and methods The specific primers for HPA-1 to 17w were designed byprimer premier 5·0 software. The PCR amplification conditions were optimized. Amplification products were purified by enzyme digestion and sequenced by a BigDye Terminator Cycle Sequencing kit. Results We used two standard DNA samples and 16 reference samples, including six with HPA gene mutations, for the HPA-1 to 17w analysis by the PCR-SBT and obtained 100% correct genotypes in these samples. The genotype and allele frequencies of HPA-1 to 17w were analysed from 112 Han Chinese persons. Thirteen new single nucleotide polymorphisms and one microsatellite were found in the sequenced regions, in which two nucleotide polymorphisms of ITGB3 gene could cause amino acid alteration of Val419Met and Glu628Lys on the mature glycoprotein, respectively. Conclusions The PCR-SBT method is reliable and accurate for HPA genotyping, suitable for routine HPA analysis, and can screen large numbers of donors. We identified 14 new polymorphisms, two of which led to amino acid changes. [ABSTRACT FROM AUTHOR]

The genetic locus for resistance to apple scab most frequently used in apple breeding is Vf, derived from Malus floribunda 821. For the Vf locus a cluster of four resistance gene paralogs (called as HcrVf genes) encoding receptor-like proteins (RLP) with similarity to the tomato Cf resistance genes is known. Based on published sequences for HcrVf1 and HcrVf2 PCR primers were designed from the domain B and the variable leucine-rich repeat (LRR) C1 subdomain. PCR products with high amino acid identity (85–100%) to HcrVf1 and HcrVf2 were obtained not only from M. floribunda 821 and Vf cultivars but also from other apple scab resistance sources, such as ‘Russian Seedling’ R12740-7A ( Vr resistance) or ‘Antonovka polutorafuntovaya’ ( VA resistance). A series of 13 HcrVf candidate genes have been partly cloned from the PCR fragments spanning N-terminal LRRs 20–30. A considerable number of amino acid exchanges within the solvent-exposed xxLxLxx structural motives were detected among the homologous sequences. Expression analyses and mapping focused on a selected Vf-homologous candidate gene (called Vf2ARD) identified in resistant Malus genotypes known for carrying other scab resistance genes than Vf. RT-PCR experiments showed that Vf2ARD is expressed under pathogen-free conditions. The results of a quantitative PCR-based transcription profiling suggest that this gene is scab-inducible in some resistant cultivars. Vf2ARD has been mapped on linkage group LG 1. It is separated from the Vf gene cluster with a genetic distance of about 2 cM and might be a member of a second Vf -like locus on apple linkage group LG 1. [ABSTRACT FROM AUTHOR]

Background and purpose:Several P2X7 receptor antagonists are allosteric inhibitors and exhibit species difference in potency. Furthermore, N2-(3,4-difluorophenyl)-N1-(2-methyl-5-(1-piperazinylmethyl)phenyl)glycinamide dihydrochloride (GW791343) exhibits negative allosteric effects at the human P2X7 receptor but is a positive allosteric modulator of the rat P2X7 receptor. In this study we have identified several regions of the P2X7 receptor that contribute to the species differences in antagonist effects.Experimental approach:Chimeric human-rat P2X7 receptors were constructed with regions of the rat receptor being inserted into the human receptor. Antagonist effects at these receptors were measured in ethidium accumulation and radioligand binding studies.Key results:Exchanging regions of the P2X7 receptor close to transmembrane domain 1 modified the effects of KN62, 4-(4-fluorophenyl)-2-(4-methylsulphinylphenyl)-5-(4-pyridyl)1H-imidazole (SB203580) and GW791343. Further studies, in which single amino acids were exchanged, identified amino acid 95 as being primarily responsible for the differential allosteric effects of GW791343 and, to varying degrees, the species differences in potency of SB203580 and KN62. The species selectivity of pyridoxalphosphate-6-azophenyl-2′,4′-disulphonic acid was affected by multiple regions of the receptor, with potency being particularly affected by the amino acid 126 but not by amino acid 95. A further region of the rat receptor (amino acids 154–183) was identified that, when inserted into the corresponding position in the human receptor, increased ATP potency 10-fold.Conclusions:This study has identified several key residues responsible for the species differences in antagonist effects at the P2X7 receptor and also identified a further region of the P2X7 receptor that can significantly affect agonist potency at the P2X7 receptor.British Journal of Pharmacology (2008) 155, 738–751; doi:10.1038/bjp.2008.306; published online 28 July 2008 [ABSTRACT FROM AUTHOR]

Understanding the selective forces that shape genetic variation in natural populations remains a high priority in evolutionary biology. Genes at the major histocompatibility complex (MHC) have become excellent models for the investigation of adaptive variation and natural selection because of their crucial role in fighting off pathogens. Here we present one of the first data sets examining patterns of MHC variation in wild populations of a bird of prey, the lesser kestrel, Falco naumanni. We report extensive polymorphism at the second exon of a putatively functional MHC class II gene, Fana-DAB*1. Overall, 103 alleles were isolated from 121 individuals sampled from Spain to Kazakhstan. Bayesian inference of diversifying selection suggests that several amino acid sites may have experienced strong positive selection (ω = 4.02 per codon). The analysis also suggests a prominent role of recombination in generating and maintaining MHC diversity (ρ = 4 Nc = 0.389 per codon, θ = 0.017 per codon). Both the Fana-DAB*1 locus and a set of eight polymorphic microsatellite markers revealed an isolation-by-distance pattern across the Western Palaearctic ( r = 0.67; P = 0.01 and r = 0.50; P = 0.04, respectively). Nonetheless, geographical variation at the MHC contrasts with relatively uniform distributions in the frequencies of microsatellite alleles. In addition, we found lower fixation rates in the MHC than those predicted by genetic drift after controlling for neutral mitochondrial sequences. Our results therefore underscore the role of balancing selection as well as spatial variations in parasite-mediated selection regimes in shaping MHC diversity when gene flow is limited. [ABSTRACT FROM AUTHOR]

The most common single nucleotide polymorphism in the coding region of the human mu opioid receptor gene is the A118G variant, an adenine to guanine transition at nucleotide position 118 of the coding sequence of the gene. This polymorphism codes for an asparagine to aspartic acid substitution at amino acid 40 in the amino-terminus, thereby removing a potential extracellular glycosylation site. Using in vitro cellular expression assays, this variant has been reported to change binding of the endogenous agonist beta-endorphin and signaling of the receptor following binding of beta-endorphin. Three clinical studies report that A118G genotype affects opioid antagonist-mediated increases in cortisol levels. These studies demonstrate a functional role of this variant in responses to endogenous and exogenous opioids. To further characterize function, we expressed the prototype and variant receptors in two types of cells (human 293 embryonic kidney cells and Syrian hamster adenovirus-12-induced tumor cells). Stable expression of variant and prototype receptors was characterized by differences in levels of cell surface binding capacity ( Bmax), forskolin-induced cAMP accumulation, as well as agonist-induced accumulation of cAMP (EC50) for several agonists, but not for beta-endorphin. In contrast, transiently expressed variant receptors showed only a minor difference in cell surface binding capacity compared to the prototype, and no differences in cAMP EC50 values. [ABSTRACT FROM AUTHOR]

• The molecular basis of an acetyl-CoA carboxylase (ACCase) target-based resistant Lolium rigidum population (WLR 96) was studied here. • The carboxyl-transferase domain of the plastidic ACCase gene from resistant individuals was amplified by PCR and sequenced. The DNA sequences were aligned and compared with a susceptible population. • Six amino acid substitutions were identified in the resistant population. The substitution Ile-2041-Asn, known to confer resistance to ACCase-inhibiting herbicides aryloxyphenoxypropionate (APP) in Alopecurus myosuroides, was identified in most resistant plants but it is always linked with other amino acid substitutions. This was confirmed by a cleaved amplified polymorphism (CAP) marker and an allele-specific PCR. The sole amino acid substitution Ile-2041-Asn was not found in this population. It is likely this mutation evolved later among individuals already possessing the other substitutions. Three haplotypes were identified from the resistant population based on the six amino acid combinations, and two are linked with herbicide resistance in this population. • The multiple amino acid substitutions including the Ile-2041-Asn form the molecular basis endowing a high degree of resistance to ACCase-inhibiting herbicides in this L. rigidum population. [ABSTRACT FROM AUTHOR]

Background& Purpose: Drug-resistant cancer cells frequently display efflux pumps such as P-glycoprotein (P-gp), the multidrug resistance associated protein (MRP1) or the transporter ABCG2. These transporters are each capable of mediating the active efflux of numerous anticancer drugs and display relatively distinct substrate preferences. The last, most recently discovered member, ABCG2, plays a major role in resistance in several types of cancer and the precise pharmacology of this multidrug transporter remain unresolved as does the nature of substrate binding.Experimental Approach: Plasma membranes from insect cells expressing ABCG2 were used to characterise binding of [3H]daunomycin to the multidrug transporter. The kinetics of association and dissociation for this substrate and several other compounds were also determined in this experimental system.Key Results: The dissociation constant for [3H]daunomycin binding was 564 +/- 57 nM and a Hill slope of 1.4 suggested cooperative binding. Doxorubicin, prazosin and daunomycin completely displaced the binding of radioligand, while mitoxantrone and Hoechst 33342 produced only a partial displacement. Analysis of the dissociation rates revealed that [3H]daunomycin and doxorubicin bind to multiple sites on the transporter.Conclusions: Both kinetic and equilibrium data support the presence of at least two symmetric drug binding sites on ABCG2, which is distinct from the asymmetry observed for P-gp. The data provide the first molecular details underlying the mechanism by which this transporter is capable of interacting with multiple substrates. [ABSTRACT FROM AUTHOR]

• In wheat the period of grain filling is characterized by a transition for all vegetative organs from sink to source status. • To study this transition, the progression of physiological markers and enzyme activities representative of nitrogen metabolism was monitored from the vegetative stage to maturity in different leaf stages and stem sections of two wheat ( Triticum aestivum) cultivars grown at high and low levels of N fertilization. • In the two cultivars examined, we found a general decrease of the metabolic and enzyme markers occurred during leaf ageing, and that this decrease was enhanced when plants were N-limited. Both correlation studies and principal components analysis (PCA) showed that there was a strong relationship among total N, chlorophyll, soluble protein, ammonium, amino acids and glutamine synthetase (GS) activity. • The use of a marker such as GS activity to predict the N status of wheat, as a function of both plant development and N availability, is discussed with the aim of selecting wheat genotypes with better N-use efficiency. [ABSTRACT FROM AUTHOR]

A single nucleotide polymorphism (SNP) in thecorticotrophin-releasing hormonegene (CRH C22G) alters the fourth amino acid in the signal sequence from proline to arginine. Two other SNPs (CRH A145GandC240G) occur in the propeptide region at residue positions 45 and 77, respectively, that result in serine/asparagine and histidine/aspartic acid substitutions respectively. These SNPs, as well as SNPs inpro-opiomelancortin(POMC),leptin(LEP) andmelanocortin-4 receptor(MC4R), were evaluated for associations with average daily gain, end-of-test rib-eye area, shipping weight and hot carcass weight in a group of 256 steers using a general linear model. TheCRH C22GSNP was associated with end-of-test rib-eye area (P < 0.034) and hot carcass weight (P < 0.0015). The SNP inPOMCwas associated with shipping weight (P < 0.0078) and hot carcass weight (P = 0.006) while it approached significance for average daily gain (P < 0.07). The SNP inMC4Rapproached significance for hot carcass weight (P < 0.085) while no significance was observed between theleptinSNP and the above listed traits. Because bothCRHandPOMCregulate appetite, potential interaction effects between these two genes were assessed. The absence of an interaction effect betweenCRHandPOMCwith hot carcass weight suggests that these genes act independently to increase carcass yield. These gene effects used singularly or together could result in an economic benefit to the beef industry. [ABSTRACT FROM AUTHOR]

Background and Objectives The blood-group antigens Dia and Dib are carried on erythrocyte band 3 and are defined by a single amino acid substitution at position 854 (Leu for Dia and Pro for Dib ). The Band 3-Memphis variant has a point mutation (166A>G) in the SLC4A1 gene, which encodes the amino acid substitution Lys56Glu. Two types of Band 3-Memphis, variants I and II, are distinguished by their susceptibility to covalent labelling with 4,4′-diisothiocyanato-1,2-diphenylethane-2,2′-disulphonic acid (H2 DIDS). Memphis II is more readily labelled than Memphis I or normal band 3. It is reported that Memphis II is associated with Dia . In a study designed to determine the frequency of the DI *A /DI *B and 166A>G polymorphisms in different populations in Brazil, we found a new DI *A allele. Materials and Methods We studied DNA samples from 70 Amazonian Indians, 71 individuals of Japanese descent, 93 random Brazilian blood donors and 84 blacks with sickle cell disease. Polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) analyses were performed on all samples, using Msp I for DI *A/DI *B (exon 19) and Mnl I for 166A>G (exon 4). Exon 4 and exon 19 from four outliers were sequenced. Results Among Amazonian Indians, DI *A and 166G mutations both had a high frequency (0·57 and 0·54, respectively). In individuals of Japanese descent, these alleles were moderately frequent (0·07 and 0·19, respectively). We identified a new allele with DI *A and 166A (56Lys) in four Amazonian Indians. Conclusions Our results revealed that DI *A does not have a strict association with 166G . They also show the relevance of testing a cohort of different populations. [ABSTRACT FROM AUTHOR]

The human IGHG2 gene locus is polymorphic, encoding two known allotypes of IgG2: G2m(n–) and G2m(n+). The allele prevalence varies greatly between different ethnic groups and individual genotypes correlate with the level of plasma IgG2 and with antibody responses to certain polysaccharide antigens. In this study, we present three new alleles of IGHG2 (IGHG2 *03, 04, and 05 ), and a complete sequence specific PCR typing system allowing discrimination between the different allotypes of IgG2. A hitherto unknown allotype, which we name G2m(ny), is encoded by IGHG2 *04 and differs from G2m(n–) by asparagine rather than serine in CH1 residue 75 and by phenylalanine rather than leucine in CH1 residue 76 (EU numbering 192 and 193). The polymorphic residues are probably surface exposed near the hinge region. The same residues are also found in IgG1, IgG3, and IgG4, and G2m(ny) is therefore an isoallotype that probably arises by gene conversion within the heavy chain locus. The IGHG2 *04 allele is present among Danish Caucasians with a low prevalence (2.5%), but was not found in Japanese or Mozambicans. The two other new alleles (IGHG2 *03 and IGHG2 *05 ) both encode the G2m(n–) allotype. The IGHG2 *03 allele encodes most of the IgG2 of the G2m(n–) allotype in Danish Caucasians. [ABSTRACT FROM AUTHOR]

The HLA-DO molecule is a non-classical class II heterodimer composed of α and β chains. We have previously recognized that all eight of the allelic variations of the HLA-DOA gene represent non-synonymous amino acid substitution. In the present study, to analyze genetic polymorphism and allelic variation of the HLA-DOB gene which may affect the efficiency of class II restricted antigen presentation thereby being involved in the susceptibility of HLA associated diseases, we conducted direct DNA sequencing of HLA-DOB in 36 HLA class II homozygous typing cells and identified six new allelic variations (DOB[sup *]0101101, [sup *]0101102, [sup *]01012, [sup *]01022, [sup *]0104101 and [sup *]0104102) including five single nucleotide polymorphisms with only one amino acid substitution. Furthermore, strong linkage disequilibrium was detected between DOB[sup *]01022 and DRB1[sup *]1502 only, with no linkage disequilibrium between the DOA and the DOB genes. The HLA-DOB gene has been identified in other mammals, and their nucleotide sequences are well conserved. These facts suggest that limited polymorphism in the DOB gene is profitable to execute their unique function as a co chaperone and so strong selective pressure is operating to prevent generic variation against the DOB molecule interacting with the DM molecule and thus maintaining the specified immunological function of regulating antigen presentation. [ABSTRACT FROM AUTHOR]

A novel c.1664G > T(p.Gly555Val) mutation in the KEL gene encoding the Kmod phenotype Rarely, Kell antigens are weakly expressed on red blood cells (RBCs) and have been classified as the K SB mod sb phenotype.[1] The quantity of K SB mod sb is decreased in the Kell glycoprotein. Lately, K SB mod sb phenotypes have been intensively genotyped and classified as I KEL*01 M.01 i , I KEL*02 M.01 i up to I KEL*02 M.11 i .[3] In this study, we identified K SB mod sb phenotype from a Japanese blood donor in the routine tests and identified this as a novel allele for the I KEL i gene. [Extracted from the article]

A novel HLA allele, C*04:82, was identified in a Chinese individual, which has nine nucleotides insertion compared with the closest matching allele HLA-C*04:01:01 in exon 5, resulting in three amino acid insertions: 301 Ala, 302 Val and 303 Leu. [ABSTRACT FROM AUTHOR]

The novel HLA-C*01:38 variant allele differs from the closest allele C*01:02:01 by a single nucleotide change at coding sequence (CDS) nt 430 G>A (codon 120 GGC>AGC) in exon 3, which causes an amino acid change Gly120Ser. [ABSTRACT FROM AUTHOR]

NOD2/CARD15 belongs to the N-terminal caspase recruitment domain family of proteins involved in regulating NF-kB activation in response to inflammatory stimuli transduced through Toll-like receptors. Mutations and polymorphisms in the NOD2/CARD15 gene reduce antibacterial responses and are associated with granulomatous inflammatory conditions such as Blau syndrome and early-onset sarcoidosis. The polymorphism R702W (arginine to tryptophan) is strongly associated with susceptibility to Crohn’s disease in Caucasian populations. Skin abnormalities (other than cutaneous manifestations of Crohn’s disease) have not been previously associated with R702W. We report on a female patient homozygous for R702W who developed granulomatous rosacea at the age of 12 years old. From the occurrence in the context of Crohn associated with R702W, we speculate that granulomatous rosacea may be an entity distinct from other forms of rosacea, which are associated with increased production of antibacterial proteins such as cathelicidin. [ABSTRACT FROM AUTHOR]