Genomes and Genes
Experts and Doctors on alleles in Uppsala, Sweden
Locale: Uppsala, Sweden
- Chowdhary B, Johansson M, Chaudhary R, Ellegren H, Gu F, Andersson L, et al. In situ hybridization mapping and restriction fragment length polymorphism analysis of the porcine albumin (ALB) and transferrin (TF) genes. Anim Genet. 1993;24:85-90 pubmed..A screening of 10 unrelated animals revealed TaqI RFLPs for both ALB and TF. Family studies indicated that the ALB and TF polymorphisms were controlled by three and two alleles, respectively. ..
- Andersson Eklund L, Uhlhorn H, Lundeheim N, Dalin G, Andersson L. Mapping quantitative trait loci for principal components of bone measurements and osteochondrosis scores in a wild boar x large white intercross. Genet Res. 2000;75:223-30 pubmed..A substantial effect of the chromosome 5 QTL calls for further studies within commercial populations to evaluate whether marker-assisted selection could be used to reduce the prevalence of osteochondrosis. ..
- Milani L, Lundmark A, Nordlund J, Kiialainen A, Flaegstad T, Jonmundsson G, et al. Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation. Genome Res. 2009;19:1-11 pubmed publisher..Our results demonstrate that CpG site methylation is one of the factors that regulates gene expression in ALL cells. ..
- Olsson M, Kierczak M, Karlsson A, Jabłońska J, Leegwater P, Koltookian M, et al. Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease. BMC Genomics. 2016;17:299 pubmed publisher..In its current form, the ddPCR test presented here could be used in canine breeding to reduce the number of homozygote CNV_16.1|5 individuals and thereby to reduce the prevalence of disease in this breed. ..
- Sigurdardottir S, Lunden A, Andersson L. Restriction fragment length polymorphism of bovine lysozyme genes. Anim Genet. 1990;21:259-65 pubmed..No statistically significant association was found between LYZ RFLPs and breeding values of bulls for disease or milk production traits. ..
- Lovmar L, Ahlford A, Jonsson M, Syvanen A. Silhouette scores for assessment of SNP genotype clusters. BMC Genomics. 2005;6:35 pubmed..The program we created for calculating Silhouette scores is freely available, and can be used for quality assessment of the results from all genotyping systems, where the genotypes are assigned by cluster analysis using scatter plots. ..
- Magnusson PKE -, Enroth H, Eriksson I, Held M, Nyren O, Engstrand L, et al. Gastric cancer and human leukocyte antigen: distinct DQ and DR alleles are associated with development of gastric cancer and infection by Helicobacter pylori. Cancer Res. 2001;61:2684-9 pubmed..Because none of the HLA alleles were associated with both Hp infection and gastric cancer, the HLA DR-DQ alleles are linked with gastric cancer risk through other mechanisms than an increased susceptibility to Hp infection. ..
- Melin M, Klar J, Jr Gedde Dahl T, Fredriksson R, Hausser I, Brandrup F, et al. A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association. J Hum Genet. 2006;51:864-71 pubmed..This region spans four known genes, all of which are expressed in mature epidermal cells. We present the results from the analysis of these four genes and their corresponding transcripts in normal and patient-derived samples. ..
- Yazdani R, Scotti I, Jansson G, Plomion C, Mathur G. Inheritance and diversity of simple sequence repeat (SSR) microsatellite markers in various families of Picea abies. Hereditas. 2003;138:219-27 pubmed..In this paper, we report on the inheritance pattern and diversity of codominant and dominant SSR microsatellites in seven families of Picea abies sharing a common mother. ..
- James T, Johansson S, Johannesson H. Trikaryon formation and nuclear selection in pairings between heterokaryons and homokaryons of the root rot pathogen Heterobasidion parviporum. Mycol Res. 2009;113:583-90 pubmed publisher..The high rate of trikaryon formation in this study suggests that fungi with multinucleate cells may have the potential for greater genetic diversity and recombination relative to dikaryotic fungi. ..
- Rönnegård L, Besnier F, Carlborg O. An improved method for quantitative trait loci detection and identification of within-line segregation in F2 intercross designs. Genetics. 2008;178:2315-26 pubmed publisher..Extensions of FIA and its applications on other intercross populations including backcrosses, advanced intercross lines, and heterogeneous stocks are also discussed. ..
- Sun Y, Corcoran P, Menkis A, Whittle C, Andersson S, Johannesson H. Large-scale introgression shapes the evolution of the mating-type chromosomes of the filamentous ascomycete Neurospora tetrasperma. PLoS Genet. 2012;8:e1002820 pubmed publisher..Taken together, the data presented herein advance our general understanding of introgression as a force shaping eukaryotic genomes. ..
- Videvall E, Sletvold N, Hagenblad J, Ã…gren J, Hansson B. Strong Maternal Effects on Gene Expression in Arabidopsis lyrata Hybrids. Mol Biol Evol. 2016;33:984-94 pubmed publisher..Our findings are relevant for understanding the consequences of outbreeding and hybridization and open up several questions for future studies. ..
- Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson K, Wadelius C. The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet. 1994;8:361-4 pubmed..These markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p < 0.0003) to D17S805 suggests that the mutation is located close to this marker. ..
- Lin J, Ortsäter H, Fakhrai Rad H, Galli J, Luthman H, Bergsten P. Phenotyping of individual pancreatic islets locates genetic defects in stimulus secretion coupling to Niddm1i within the major diabetes locus in GK rats. Diabetes. 2001;50:2737-43 pubmed..The results demonstrate that Niddm1i carries alleles of gene(s) that reduce glucose-induced insulin release and that are amenable to molecular identification by genetic fine mapping. ..
- Menkis A, Bastiaans E, Jacobson D, Johannesson H. Phylogenetic and biological species diversity within the Neurospora tetrasperma complex. J Evol Biol. 2009;22:1923-36 pubmed publisher..Taken together, phylogenetically and biologically defined groups of individuals exist in N. tetrasperma, and these should be taken into account in future studies of its life history traits. ..
- Richter Boix A, Quintela M, Kierczak M, Franch M, Laurila A. Fine-grained adaptive divergence in an amphibian: genetic basis of phenotypic divergence and the role of nonrandom gene flow in restricting effective migration among wetlands. Mol Ecol. 2013;22:1322-40 pubmed publisher..Our results highlight the roles of strong selection and nonrandom gene flow created by phenological variation and, possibly, habitat preferences, which together maintain genetic and phenotypic divergence at a fine-grained spatial scale. ..
- Hellström A, WATT B, Fard S, Tenza D, Mannstrom P, Narfstrom K, et al. Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation. PLoS Genet. 2011;7:e1002285 pubmed publisher..Despite a mild effect on visible pigmentation, inactivation of Pmel led to a substantial reduction in eumelanin content in hair, which demonstrates that PMEL has a critical role for maintaining efficient epidermal pigmentation. ..
- Jerlström Hultqvist J, Franzén O, Ankarklev J, Xu F, Nohynkova E, Andersson J, et al. Genome analysis and comparative genomics of a Giardia intestinalis assemblage E isolate. BMC Genomics. 2010;11:543 pubmed publisher..To further understand the genetic diversity between the Giardia intestinalis species, we have performed genome sequencing and analysis of a wild-type Giardia intestinalis sample from the assemblage E group, isolated from a pig...
- Nordquist N, Oreland L. Monoallelic expression of MAOA in skin fibroblasts. Biochem Biophys Res Commun. 2006;348:763-7 pubmed..Our results show that the MAO-A gene has mono-allelic expression in these cells. This could have important implications for understanding traits that display gender differences. ..
- Mushtaq M, Bongcam Rudloff E, Loftsdottir H, Pringle M, Segerman B, Zuerner R, et al. Genetic analysis of a Treponema phagedenis locus encoding antigenic lipoproteins with potential for antigenic variation. Vet Microbiol. 2016;189:91-8 pubmed publisher..The vpsA and prrA genes occur in allelic variants in different T. phagedenis isolates and may provide one explanation for the antigenic variation observed in T. phagedenis DD isolates. ..
- Bentmar Holgersson M, Ruhayel Y, Karlsson M, Giwercman A, Bjartell A, Ohlsson C, et al. Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele. Cancer Causes Control. 2017;28:227-233 pubmed publisher..68; 95% CI 0.51-0.90; p?=?0.008). Swedish men with the variant AR haplotype H2, tagged by rs6624304, have significantly lower risk of PCa compared to those with the more common variant. ..
- Menkis A, Jacobson D, Gustafsson T, Johannesson H. The mating-type chromosome in the filamentous ascomycete Neurospora tetrasperma represents a model for early evolution of sex chromosomes. PLoS Genet. 2008;4:e1000030 pubmed publisher..tetrasperma involved more than one evolutionary event, covers the majority of the mating-type chromosome and is flanked by distal regions with obligate crossovers...
- Nordmark G, Kristjansdottir G, Theander E, Eriksson P, Brun J, Wang C, et al. Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome. Genes Immun. 2009;10:68-76 pubmed publisher..43, whereas carriers of five risk alleles have an OR of 6.78. IRF5 and STAT4 are components of the type I IFN system, and our findings emphasize the importance of this system in the etiopathogenesis of primary SS. ..
- Sigurdsson S, Nordmark G, Goring H, Lindroos K, Wiman A, Sturfelt G, et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005;76:528-37 pubmed..TYK2 binds to the type I IFN receptor complex and IRF5 is a regulator of type I IFN gene expression. Thus, our results support a disease mechanism in SLE that involves key components of the type I IFN system. ..
- Marklund L, Moller M, Sandberg K, Andersson L. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mamm Genome. 1996;7:895-9 pubmed..The polymorphism can be detected with a simple PCR-RFLP test, since the mutation creates a TaqI restriction site in the chestnut allele. ..
- Cavalli M, Pan G, Nord H, Wadelius C. Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels. Lipids Health Dis. 2016;15:18 pubmed publisher..The results suggest that rs4846913 and rs2144300 drive the association to HDL-C plasma levels through an inhibitory regulation of GALNT2 rather than the reported lead GWAS SNP rs4846914. ..
- Wargelius H, Malmberg K, Larsson J, Oreland L. Associations of MAOA-VNTR or 5HTT-LPR alleles with attention-deficit hyperactivity disorder symptoms are moderated by platelet monoamine oxidase B activity. Psychiatr Genet. 2012;22:42-5 pubmed publisher..001 and 0.01, respectively). This re-examination of ADHD scores in a nonclinical sample suggests that effects of MAOA-VNTR and 5HTT-LPR are moderated by platelet MAOB activity. ..
- Kari B, CsordÃ¡s G, Honti V, Cinege G, Williams M, AndÃ³ I, et al. The raspberry Gene Is Involved in the Regulation of the Cellular Immune Response in Drosophila melanogaster. PLoS ONE. 2016;11:e0150910 pubmed publisher..Notably, hemocyte attachment to the egg and subsequent melanization of the capsule are deficient in hypomorphic ras mutant larvae, which results in a compromised cellular immune response and increased survival of the parasitoid. ..
- Löfgren S, Delgado Vega A, Gallant C, Sanchez E, Frostegard J, Truedsson L, et al. A 3'-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus. Arthritis Rheum. 2010;62:3404-14 pubmed publisher..This study identified an association of CD226 with SLE in individuals of European ancestry. These data support the importance of the 3'-UTR SNP rs727088 in the regulation of CD226 transcription both in T cells and in NKT cells. ..
- Ankarklev J, Svard S, Lebbad M. Allelic sequence heterozygosity in single Giardia parasites. BMC Microbiol. 2012;12:65 pubmed publisher..Thus, two important questions have arisen; i) does ASH occur at the single cell level, and/or ii) do multiple sub-genotype infections commonly occur in patients infected with assemblage B, G. intestinalis isolates?..
- Sundstr m E, Imsland F, Mikko S, Wade C, Sigurdsson S, Pielberg G, et al. Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses. BMC Genomics. 2012;13:365 pubmed publisher..The elucidation of the mechanistic features of the duplication will be of considerable interest for the characterization of these horse melanomas as well as for the field of human melanoma research...
- Li H, Reksten T, Ice J, Kelly J, Adrianto I, Rasmussen A, et al. Identification of a SjÃ¶gren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 2017;13:e1006820 pubmed publisher..Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease. ..
- Asplund L, Bergkvist G, Leino M, Westerbergh A, Weih M. Swedish spring wheat varieties with the rare high grain protein allele of NAM-B1 differ in leaf senescence and grain mineral content. PLoS ONE. 2013;8:e59704 pubmed publisher..Although the possible effects of other gene actions were impossible to distinguish, the genetic resource of Fennoscandian spring wheats with the wt NAM-B1 allele is interesting to investigate further for breeding purposes. ..
- Prokopenko I, Poon W, Magi R, Prasad B R, Salehi S, Almgren P, et al. A central role for GRB10 in regulation of islet function in man. PLoS Genet. 2014;10:e1004235 pubmed publisher..The data also emphasize the need in genetic studies to consider whether risk alleles are inherited from the mother or the father. ..
- Sharma R, Harris V, Cavett J, Kurien B, Liu K, Koelsch K, et al. Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and SjÃ¶gren's Syndrome. Arthritis Rheumatol. 2017;69:2187-2192 pubmed publisher..Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. ..
- Fang M, Larson G, Ribeiro H, Li N, Andersson L. Contrasting mode of evolution at a coat color locus in wild and domestic pigs. PLoS Genet. 2009;5:e1000341 pubmed publisher..This pattern demonstrates that coat color phenotypes result from direct human selection and not via a simple relaxation of natural selective pressures. ..
- Wadelius M, Stjernberg E, Wiholm B, Rane A. Polymorphisms of NAT2 in relation to sulphasalazine-induced agranulocytosis. Pharmacogenetics. 2000;10:35-41 pubmed..Instead, selection bias was suspected since more slow acetylators may have discontinued sulphasalazine therapy because of drug-intolerance. ..
- Ivansson E, Magnusson J, Magnusson P, Erlich H, Gyllensten U. MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2. Genes Immun. 2008;9:613-23 pubmed publisher..Our results emphasize the importance of large sample sizes and underscore the necessity of examining both HLA and non-HLA loci in the MHC to assign association to the correct locus...
- Eriksson J, Larson G, Gunnarsson U, Bed Hom B, Tixier Boichard M, Strömstedt L, et al. Identification of the yellow skin gene reveals a hybrid origin of the domestic chicken. PLoS Genet. 2008;4:e1000010 pubmed publisher..This is the first conclusive evidence for a hybrid origin of the domestic chicken, and it has important implications for our views of the domestication process. ..
- Linga Reddy M, Gunnarsson I, Svenungsson E, Sturfelt G, Jonsen A, Truedsson L, et al. A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus. Tissue Antigens. 2007;70:412-4 pubmed..We conclude that our data support neither allelic nor genotype association between the MHC2TA SNP and SLE. ..
- Schwochow Thalmann D, Ring H, Sundström E, Cao X, Larsson M, Kerje S, et al. The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A. PLoS Genet. 2017;13:e1006665 pubmed publisher..Our results show that CDKN2A is a major locus driving the differentiation of avian melanocytes in a temporal and spatial manner. ..
- Pucholt P, Hallingbäck H, Berlin S. Allelic incompatibility can explain female biased sex ratios in dioecious plants. BMC Genomics. 2017;18:251 pubmed publisher..Thus, it is possible that the same mechanism generates the female biased sex ratio in natural willow populations. ..
- Karlsson J, Lind L, Hallberg P, Michaelsson K, Kurland L, Kahan T, et al. Beta1-adrenergic receptor gene polymorphisms and response to beta1-adrenergic receptor blockade in patients with essential hypertension. Clin Cardiol. 2004;27:347-50 pubmed
- Agren T, Furmark T, Eriksson E, Fredrikson M. Human fear reconsolidation and allelic differences in serotonergic and dopaminergic genes. Transl Psychiatry. 2012;2:e76 pubmed publisher..These results demonstrate that reconsolidation of human fear memory is influenced by dopamine and serotonin-related genes. ..
- Alenius M, Wadelius M, Dahl M, Hartvig P, Lindström L, Hammarlund Udenaes M. Gene polymorphism influencing treatment response in psychotic patients in a naturalistic setting. J Psychiatr Res. 2008;42:884-93 pubmed..If these results are confirmed, patients carrying the DRD2 Taq1 A1 allele would benefit from using drugs without strong dopamine D2 receptor antagonistic properties. ..
- Whittle C, Sun Y, Johannesson H. Genome-wide selection on codon usage at the population level in the fungal model organism Neurospora crassa. Mol Biol Evol. 2012;29:1975-86 pubmed publisher..Overall, the present data demonstrate that selection, and partly genetic interference, shapes codon variation across the genome in N. crassa populations. ..
- Väli U, Brandstrom M, Johansson M, Ellegren H. Insertion-deletion polymorphisms (indels) as genetic markers in natural populations. BMC Genet. 2008;9:8 pubmed publisher..With an increasing amount of sequence information gathered from non-model organisms, we suggest that indels will come to form an important source of genetic markers, easy and cheap to genotype, for studies of natural populations. ..
- Jacobsson J, Riserus U, Axelsson T, Lannfelt L, Schioth H, Fredriksson R. The common FTO variant rs9939609 is not associated with BMI in a longitudinal study on a cohort of Swedish men born 1920-1924. BMC Med Genet. 2009;10:131 pubmed publisher..There is an interaction between physical activity and the effect of the FTO genotype on BMI levels suggesting that lack of physical activity is a requirement for an association of FTO gene variants to obesity. ..
- Zhang W, Modén O, Mannervik B. Differences among allelic variants of human glutathione transferase A2-2 in the activation of azathioprine. Chem Biol Interact. 2010;186:110-7 pubmed publisher..Clinical trials will be required to clarify the impact of the GST expression in comparison with the established biomarker thiopurine methyltransferase as predictors of adverse reactions. ..
- Liljedahl U, Fredriksson M, Dahlgren A, Syvanen A. Detecting imbalanced expression of SNP alleles by minisequencing on microarrays. BMC Biotechnol. 2004;4:24 pubmed..We conclude that microarray based minisequencing is an accurate and accessible tool for multiplexed screening for imbalanced allelic expression in multiple samples and tissues in parallel. ..
- Sigurdardottir S, Borsch C, Gustafsson K, Andersson L. Gene duplications and sequence polymorphism of bovine class II DQB genes. Immunogenetics. 1992;35:205-13 pubmed..The frequency of silent substitutions between DQB alleles was markedly lower in cattle than in humans, in agreement with a previous comparison of human and bovine DRB alleles. ..
- Gustavsson B, Eklöf C, Westermark K, Westermark B, Heldin N. Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease. Mol Cell Endocrinol. 1995;111:167-73 pubmed..Furthermore, the D36H-receptor also became desensitized when exposed to TSH as did the WT-receptor. ..
- Simanainen J, Kinch A, Westermark K, Winsa B, Bengtsson M, Schuppert F, et al. Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants. Thyroid. 1999;9:7-11 pubmed..3% (22/300). There was no major difference in the frequency for either of the TSHR alleles between the 2 groups. Thus, these 2 polymorphic variants of the TSHR seem to occur in a relatively high frequency in the population. ..
- Bergstrom R, Whitehead J, Kurukuti S, Ohlsson R. CTCF regulates asynchronous replication of the imprinted H19/Igf2 domain. Cell Cycle. 2007;6:450-4 pubmed..Here we show that maternal, but not paternal inheritance of a mutated H19 imprinting control region, lacking functional CTCF binding sites, underlies a late to early switch in replication timing of the maternal H19/Igf2 domain. ..
- Munir M, Zohari S, Metreveli G, Baule C, Belak S, Berg M. Alleles A and B of non-structural protein 1 of avian influenza A viruses differentially inhibit beta interferon production in human and mink lung cells. J Gen Virol. 2011;92:2111-21 pubmed publisher..This study therefore expands the versatile nature of the NS1 protein in inhibiting IFN responses at multiple levels, by demonstrating for the first time that it occurs in a manner dependent on allele type...
- Taqi M, Bazov I, Watanabe H, Sheedy D, Harper C, Alkass K, et al. Prodynorphin CpG-SNPs associated with alcohol dependence: elevated methylation in the brain of human alcoholics. Addict Biol. 2011;16:499-509 pubmed publisher..The findings suggest a causal link between alcoholism-associated PDYN 3'-UTR CpG-SNP methylation, activation of PDYN transcription and vulnerability of individuals with the C, non-risk allele(s) to develop alcohol dependence. ..
- Kozyrev S, Abelson A, Wojcik J, Zaghlool A, Linga Reddy M, Sanchez E, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet. 2008;40:211-6 pubmed publisher..The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease...
- Kurland L, Melhus H, Karlsson J, Kahan T, Malmqvist K, Ohman P, et al. Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Ateno. J Hypertens. 2002;20:657-63 pubmed..This highlights the role of the RAAS for left ventricular hypertrophy and the potential of pharmacogenetics as a tool for guidance of antihypertensive therapy. ..
- Rask Andersen M, Jacobsson J, Moschonis G, Chavan R, Sikder M, Allzén E, et al. Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats. Eur J Hum Genet. 2012;20:192-7 pubmed publisher..We observed a strong positive correlation between TMEM18 expression and body weight in the prefrontal cortex (PFC) (r = 0.5694, P = 0.0003) indicating a potential role for TMEM18 in higher functions related to feeding involving the PFC. ..
- Kijas J, Wales R, Tornsten A, Chardon P, Moller M, Andersson L. Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. Genetics. 1998;150:1177-85 pubmed..Two different missense mutations were identified in recessive red (e/e) animals. One of these, A240T, occurs at a highly conserved position, making it a strong candidate for disruption of receptor function. ..
- Andersson L, Juras R, Ramsey D, Eason Butler J, Ewart S, Cothran G, et al. Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6. BMC Genet. 2008;9:88 pubmed publisher..The genotype data on UPP5, PMEL17ex11 and UPP6 strongly support the hypothesis that horses with the Cyst phenotype are heterozygous for the mutant allele and that horses with the MCOA phenotype are homozygous for the mutant allele. ..
- Menkis A, Whittle C, Johannesson H. Gene genealogies indicates abundant gene conversions and independent evolutionary histories of the mating-type chromosomes in the evolutionary history of Neurospora tetrasperma. BMC Evol Biol. 2010;10:234 pubmed publisher..We argue that gene conversions might provide an efficient mechanism of adaptive editing of functional genes, including the removal of deleterious mutations, within the young recombinationally suppressed region of the mat chromosomes. ..
- Jansson M, Tomic L, Larsson L, Wadelius C. Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma. Mol Vis. 2003;9:93-5 pubmed..Only rare variants were detected in the patient material. There was no evidence that the oculomedin gene participates in the etiology of glaucoma. ..
- Eriksson S, Berg L, Wadelius M, Alderborn A. Cytochrome p450 genotyping by multiplexed real-time dna sequencing with pyrosequencing technology. Assay Drug Dev Technol. 2002;1:49-59 pubmed..Pyrosequencing technology offers a highly automated, rapid, and accurate method for identification of cytochrome p450 alleles, which is suitable for pharmacogenomic research, as well as for routine assessment of patient genotypes. ..
- Holmborn K, Habicher J, Kasza Z, Eriksson A, Filipek Gorniok B, Gopal S, et al. On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. J Biol Chem. 2012;287:33905-16 pubmed
- Reddy M, Velázquez Cruz R, Baca V, Lima G, Granados J, Orozco L, et al. Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans. Hum Genet. 2007;121:721-7 pubmed
- Kriz V, Mares J, Wentzel P, Funa N, Calounova G, Zhang X, et al. Shb null allele is inherited with a transmission ratio distortion and causes reduced viability in utero. Dev Dyn. 2007;236:2485-92 pubmed..However, Shb+/- female mice ovulated preferentially Shb- oocytes explaining the reduced frequency of Shb+/+ mice. Our study suggests a role of SHB during reproduction and development. ..
- Bengtsson H, Epifantseva I, Abrink M, Kylberg A, Kullander K, Ebendal T, et al. Generation and characterization of a Gdf1 conditional null allele. Genesis. 2008;46:368-72 pubmed publisher..This indicates that the transcript level is regulated by a negative feedback-loop, sensing presence of either the protein or the mRNA region encoded by Gdf1 exon 2. ..
- Pigg M, Gedde Dahl T, Cox D, Hausser I, Anton Lamprecht I, Dahl N. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet. 1998;6:589-96 pubmed..The mutation was previously observed in one family with a resulting cDNA that included the entire intron 5. These results suggest that the mutation can result in variant transcripts in different individuals. ..