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24-h ambulatory blood pressure is linked to chromosome 18q21-22 and genetic variation of NEDD4L associates with cross-sectional and longitudinal blood pressure in Swedes.

https://arctichealth.org/en/permalink/ahliterature81774
Source
Kidney Int. 2006 Aug;70(3):562-9
Publication Type
Article
Date
Aug-2006
Author
Fava C.
von Wowern F.
Berglund G.
Carlson J.
Hedblad B.
Rosberg L.
Burri P.
Almgren P.
Melander O.
Author Affiliation
Department of Clinical Sciences, University Hospital MAS, Malmö, Sweden.
Source
Kidney Int. 2006 Aug;70(3):562-9
Date
Aug-2006
Language
English
Publication Type
Article
Keywords
Adult
Alternative Splicing
Antihypertensive Agents - therapeutic use
Blood Pressure - genetics
Blood Pressure Monitoring, Ambulatory
Chromosomes, Human, Pair 18
Circadian Rhythm
Cross-Sectional Studies
Female
Genetic Predisposition to Disease - epidemiology
Genotype
Humans
Hypertension - drug therapy - epidemiology - genetics
Insulin - blood
Linkage (Genetics)
Longitudinal Studies
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Risk factors
Sweden - epidemiology
Ubiquitin-Protein Ligases - genetics
Variation (Genetics)
Abstract
Numerous linkage studies have indicated chromosome 18q21-22 as a locus of importance for blood pressure regulation. This locus harbors the neural precursor cell expressed developmentally downregulated 4-like (NEDD4L) gene, which is instrumental for the regulation of the amiloride-sensitive epithelial sodium channel (ENaC). In a linkage study of 16 markers (including two single nucleotide polymorphism markers located within the NEDD4L gene) on chromosome 18 between 70-104 cM and ambulatory blood pressure (ABP), in 118 families, the strongest evidence of linkage was found for 24 h and day-time systolic ABP at the NEDD4L locus (82.25 cM) (P=0.0014). In a large population sample (n=4001), we subsequently showed that a NEDD4L gene variant (rs4149601), which by alternative splicing leads to varying expression of a functionally crucial C2 domain, was associated with diastolic blood pressure (DBP) (P=0.03) and DBP progression over time (P=0.04). A genotype combination of the rs4149601 and an intronic NEDD4L marker (rs2288774) was associated with systolic blood pressure (SBP) (P=0.01), DBP (P=0.04), and progression of both SBP (P=0.03) and DBP (P=0.05) over time. A quantitative transmission disequilibrium test in the family material of the rs4149601 supported this NEDD4L variant as being at least partially causative of the linkage result. In conclusion, our findings suggest that the chromosome 18 linkage peak at 82.25 cM is explained by genetic NEDD4L variation affecting cross-sectional and longitudinal blood pressure, possibly as a consequence of altered NEDD4L interaction with ENaC.
PubMed ID
16788695 View in PubMed
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Acute myeloblastic leukaemia cells produce soluble interleukin 6 receptor by a mechanism of alternative splicing.

https://arctichealth.org/en/permalink/ahliterature21239
Source
Cytokine. 1998 Nov;10(11):860-7
Publication Type
Article
Date
Nov-1998
Author
M. Säily
P. Koistinen
K. Pulkki
A. Zheng
E R Savolainen
Author Affiliation
Department of Clinical Chemistry, University of Oulu, Finland.
Source
Cytokine. 1998 Nov;10(11):860-7
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alternative Splicing
Female
Humans
Interleukin-6 - biosynthesis - genetics
Leukemia, Myelocytic, Acute - genetics - metabolism
Male
Middle Aged
RNA, Messenger - genetics
Research Support, Non-U.S. Gov't
Tumor Cells, Cultured
Abstract
The aim of the present work was to investigate whether acute myeloblastic leukaemia (AML) blast cells express a soluble (s) form of interleukin 6 (IL-6) receptor (R), and if they do, what is the mechanism of production. Eight AML patient cell lines and 25 primary AML blast cell samples were investigated. The cell lines secreted high quantities of sIL-6R into their culture medium when examined by enzyme-linked immunosorbent assay (ELISA). To determine whether sIL-6R is synthesized by a mechanism of alternative splicing, RNA was analysed from all the AML blast cell samples by using reverse transcription polymerase chain reaction. In this method, primer sites flanking the transmembrane domain were utilized and the alternatively spliced IL-6R mRNA was distinguished from the non-spliced transcript form by size. All the cell lines and 64% of the primary blast cell samples expressed the alternatively spliced IL-6R mRNA. To confirm the phenomenon of alternative splicing at protein level, cytoplasmic protein fractions of the cell lines were investigated by using a sensitive adaptation of the Western blot method. All the cell lines expressed two IL-6R proteins sized 80 and 50 kDa and corresponding to the membraneous and soluble forms of IL-6R, respectively. In conclusion, the results obtained at both mRNA and protein levels strongly support alternative splicing as a mechanism of sIL-6R production in AML. Because sIL-6R modulates the effects of IL-6 on target cells, differences in sIL-6R expression levels may partially explain the previously observed diversity in IL-6-induced growth responses in AML
Notes
Comment In: Cytokine. 2000 Apr;12(4):42210805228
PubMed ID
10025979 View in PubMed
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Alternative EBNA1 expression in organ transplant patients.

https://arctichealth.org/en/permalink/ahliterature29709
Source
J Med Virol. 2005 Jul;76(3):378-85
Publication Type
Article
Date
Jul-2005
Author
Malin A M Berggren
Asa Isaksson
Ulrica Larsson
Folke Nilsson
Ulla Nyström
Tor Ekman
Jane Löfvenmark
Anne Ricksten
Author Affiliation
Institute of Laboratory Medicine, Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Göteborg University, Gothenburg, Sweden.
Source
J Med Virol. 2005 Jul;76(3):378-85
Date
Jul-2005
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions
Adolescent
Adult
Alternative Splicing
Blotting, Western
Cell Line
Child
Child, Preschool
Epstein-Barr Virus Nuclear Antigens - biosynthesis - genetics
Exons
Female
Herpesvirus 4, Human - genetics
Humans
Infant
Leukocytes - virology
Male
Middle Aged
Organ Transplantation
RNA, Messenger - analysis - genetics
RNA, Viral - analysis
Research Support, Non-U.S. Gov't
Reverse Transcriptase Polymerase Chain Reaction
Sweden
Transfection
Abstract
In order to identify patients at risk for developing post-transplant lymphoproliferative disease (PTLD), a sensitive nested RT-PCR method for detection of EBNA1 gene expression in peripheral blood cells was used. EBNA1 expression in peripheral blood samples from 60 organ recipients was analyzed and compared with 24 healthy controls in a retrospective study. Overall, EBNA1-positive samples were detected at least once in 43% of the transplant patients with post-transplant lymphoproliferative disease, in 18% of the other transplant patients and in none of the healthy controls. The odds ratio for EBNA1 expression in patients with post-transplant lymphoproliferative disease was 3.42 (95% CI=1.02-11.54) compared to other transplant recipients. Together with normal EBV Q promoter initiated EBNA1 transcripts, an alternatively spliced form was expressed in peripheral blood cells in the above-mentioned transplant patients. This transcript lacks the U leader exon in the 5'-untranslated region (UTR). We have previously identified and characterized a functional internal ribosome entry site, the EBNA IRES, in the untranslated U leader exon of EBNA1. Transfection experiments with EBNA1 coding plasmids followed by Western blot showed that the EBNA IRES promotes cap-independent translation and increases the EBNA1 protein level. The alternative EBNA1 transcript lacking this function is expressed in the majority of the investigated EBNA1-positive patient samples as well as in some EBV-positive B-cell lines. Alternative splicing in this form gives EBV potential to regulate the translation of EBNA1 by modifying the 5' UTR. These findings indicate a new mechanism for EBNA1 expression in vivo.
PubMed ID
15902706 View in PubMed
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Alternative splicing of interleukin-6 mRNA in mice.

https://arctichealth.org/en/permalink/ahliterature63300
Source
Bull Exp Biol Med. 2004 Jul;138(1):73-6
Publication Type
Article
Date
Jul-2004
Author
O P Yatsenko
M L Filipenko
E A Khrapov
E N Voronina
S V Sennikov
V A Kozlov
Author Affiliation
Laboratory for Regulation of Immunopoiesis, Institute of Clinical Immunology, Siberian Division of the Russian Academy of Medical Sciences.
Source
Bull Exp Biol Med. 2004 Jul;138(1):73-6
Date
Jul-2004
Language
English
Publication Type
Article
Keywords
Alternative Splicing
Amino Acid Sequence
Animals
Binding Sites
Crosses, Genetic
Erythrocytes - immunology
Exons
Female
Interleukin-6 - chemistry - genetics
Mice
Mice, Inbred C57BL
Mice, Inbred CBA
Molecular Sequence Data
Placenta - metabolism
Pregnancy
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Protein Biosynthesis
Protein Isoforms - chemistry
Protein Structure, Secondary
RNA, Messenger - metabolism
Sequence Deletion
Sequence Homology, Amino Acid
Sheep
Spleen - metabolism
Abstract
Expression of mRNA for interleukin-6, interleukin-6Delta3, and interleukin-6Delta5 was detected in placental tissue (second and third trimesters of pregnancy) and spleen of mice immunized with sheep erythrocytes in high dose. We hypothesize that translation of mRNA yields proteins capable of binding to individual subunits of the interleukin-6 receptor and possessing effector functions.
PubMed ID
15514729 View in PubMed
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Amyloid precursor protein gene mutation at codon 670/671 in familial Alzheimer's disease in Sweden.

https://arctichealth.org/en/permalink/ahliterature218886
Source
Biochem Soc Trans. 1994 Feb;22(1):176-9
Publication Type
Article
Date
Feb-1994

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

https://arctichealth.org/en/permalink/ahliterature32895
Source
Am J Hum Genet. 2000 Feb;66(2):368-77
Publication Type
Article
Date
Feb-2000
Author
M. Melkoniemi
H G Brunner
S. Manouvrier
R. Hennekam
A. Superti-Furga
H. Kääriäinen
R M Pauli
T. van Essen
M L Warman
J. Bonaventure
P. Miny
L. Ala-Kokko
Author Affiliation
Collagen Research Unit, Biocenter, Department of Medical Biochemistry, University of Oulu, Kajaanintie 52A, FIN-90220 Oulu, Finland.
Source
Am J Hum Genet. 2000 Feb;66(2):368-77
Date
Feb-2000
Language
English
Publication Type
Article
Keywords
Adult
Alternative Splicing - genetics
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Codon, Terminator - genetics
Collagen - deficiency - genetics
Consanguinity
Deafness - genetics - physiopathology
Diseases in Twins - genetics
Exons - genetics
Female
Genes, Recessive - genetics
Humans
Infant
Male
Molecular Sequence Data
Mutation - genetics
Osteochondrodysplasias - genetics - physiopathology - radiography
Pedigree
RNA, Messenger - analysis - genetics
Research Support, U.S. Gov't, P.H.S.
Sequence Deletion - genetics
Abstract
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders-Stickler and Marshall syndromes-but can be distinguished by disproportionately short limbs, severe hearing loss, and lack of ocular involvement. In one family with OSMED, a homozygous Gly-->Arg substitution has been described in COL11A2, which codes for the alpha2 chain of type XI collagen. We report seven further families with OSMED. All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, an extremely flat face, hypoplasia of the mandible, a short nose with anteverted nares, and a flat nasal bridge. We screened affected individuals for mutations in COL11A2 and found different mutations in each family. Individuals from four families, including three with consanguineous parents, were homozygous for mutations. Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 are predicted to cause premature termination of translation, and 1 is predicted to cause an in-frame deletion. We conclude that the OSMED phenotype is highly homogenous and results from homozygosity or compound heterozygosity for COL11A2 mutations, most of which are predicted to cause complete absence of alpha2(XI) chains.
PubMed ID
10677296 View in PubMed
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[CD44 gene expression in cancerous thyroid cells]

https://arctichealth.org/en/permalink/ahliterature20866
Source
Tsitol Genet. 1999 Mar-Apr;33(2):27-32
Publication Type
Article
Author
A V Pisarchik
N A Kartel'
G Z Ermak
J. Figge
Source
Tsitol Genet. 1999 Mar-Apr;33(2):27-32
Language
Russian
Publication Type
Article
Keywords
Accidents, Radiation
Alternative Splicing - genetics - radiation effects
Antigens, CD44 - genetics - radiation effects
Base Sequence
Byelarus
Carcinoma, Papillary - genetics
Child
Comparative Study
DNA Primers
English Abstract
Gene Expression Regulation, Neoplastic - genetics - radiation effects
Humans
Molecular Sequence Data
Oncogenes - genetics - radiation effects
Polymerase Chain Reaction - methods
Power Plants
RNA, Messenger - genetics - radiation effects
Thyroid Gland - radiation effects
Thyroid Neoplasms - genetics
Ukraine
Abstract
The peculiarities of alternative CD44 mRNA splicing in thyroid cancer tissue of children from radiocontaminated areas was investigated. CD44 gene expression in thyroid cancer tissues of children exposed to radiation resembled that in spontaneously emerged cancers. It was concluded that CD44 gene expression is not the primary target of radioactive irradiation. Probably, the CD44 mRNA splicing deregulation is the consequence of cancer.
PubMed ID
10465838 View in PubMed
Less detail

Characterization of a common susceptibility locus for asthma-related traits.

https://arctichealth.org/en/permalink/ahliterature180651
Source
Science. 2004 Apr 9;304(5668):300-4
Publication Type
Article
Date
Apr-9-2004
Author
Tarja Laitinen
Anne Polvi
Pia Rydman
Johanna Vendelin
Ville Pulkkinen
Paula Salmikangas
Siru Mäkelä
Marko Rehn
Asta Pirskanen
Anna Rautanen
Marco Zucchelli
Harriet Gullstén
Marina Leino
Harri Alenius
Tuula Petäys
Tari Haahtela
Annika Laitinen
Catherine Laprise
Thomas J Hudson
Lauri A Laitinen
Juha Kere
Author Affiliation
GeneOS Limited, 00251 Helsinki, Finland.
Source
Science. 2004 Apr 9;304(5668):300-4
Date
Apr-9-2004
Language
English
Publication Type
Article
Keywords
Algorithms
Alternative Splicing
Animals
Asthma - genetics - metabolism
Bronchi - chemistry - cytology
Chromosomes, Human, Pair 7 - genetics
Epithelial Cells - chemistry
Female
Finland
Gene Expression
Genes
Genetic Linkage
Genetic Predisposition to Disease
Genetic Variation
Genotype
Haplotypes
Humans
Hypersensitivity - genetics - metabolism
Immunoglobulin E - blood
Inflammation - genetics
Lung - metabolism
Male
Mice
Myocytes, Smooth Muscle - chemistry
Polymorphism, Single Nucleotide
Quebec
Receptors, G-Protein-Coupled - analysis - genetics
Abstract
Susceptibility to asthma depends on variation at an unknown number of genetic loci. To identify susceptibility genes on chromosome 7p, we adopted a hierarchical genotyping design, leading to the identification of a 133-kilobase risk-conferring segment containing two genes. One of these coded for an orphan G protein-coupled receptor named GPRA (G protein-coupled receptor for asthma susceptibility), which showed distinct distribution of protein isoforms between bronchial biopsies from healthy and asthmatic individuals. In three cohorts from Finland and Canada, single nucleotide polymorphism-tagged haplotypes associated with high serum immunoglobulin E or asthma. The murine ortholog of GPRA was up-regulated in a mouse model of ovalbumin-induced inflammation. Together, these data implicate GPRA in the pathogenesis of atopy and asthma.
Notes
Comment In: Science. 2004 Apr 9;304(5668):185-715073340
PubMed ID
15073379 View in PubMed
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Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

https://arctichealth.org/en/permalink/ahliterature20262
Source
Hum Mutat. 2000 Sep;16(3):232-46
Publication Type
Article
Date
Sep-2000
Author
K. Laake
L. Jansen
J M Hahnemann
K. Brondum-Nielsen
T. Lönnqvist
H. Kääriäinen
R. Sankila
A. Lähdesmäki
L. Hammarström
J. Yuen
S. Tretli
A. Heiberg
J H Olsen
M. Tucker
R. Kleinerman
A L Børresen-Dale
Author Affiliation
Department of Genetics, Norwegian Radium Hospital, Oslo, Norway.
Source
Hum Mutat. 2000 Sep;16(3):232-46
Date
Sep-2000
Language
English
Publication Type
Article
Keywords
Alternative Splicing - genetics
Ataxia Telangiectasia - epidemiology - genetics
Child
DNA Mutational Analysis
Denmark - epidemiology
Female
Finland - epidemiology
Heterozygote Detection
Humans
Loss of Heterozygosity - genetics
Male
Mutation - genetics
Norway - epidemiology
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Sweden - epidemiology
Abstract
The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition. In this study, 41 AT families from Denmark, Finland, Norway, and Sweden were screened for ATM mutations. The protein truncation test (PTT), fragment length and heteroduplex analyses of large (0.8-1.2 kb) cDNA fragments were used. In total, 67 of 82 (82%) of the disease-causing alleles were characterized. Thirty-seven unique mutations were detected of which 25 have not previously been reported. The mutations had five different consequences for the ATM transcript: mutations affecting splicing (43%); frameshift mutations (32%); nonsense mutations (16%); small in-frame deletions (5%); and one double substitution (3%). In 28 of the probands mutations were found in both alleles, in 11 of the probands only one mutated allele was detected, and no mutations were detected in two Finnish probands. One-third of the probands (13) were homozygous, whereas the majority of the probands (26) were compound heterozygote with at least one identified allele. Ten alleles were found more than once; one Norwegian founder mutation constituted 57% of the Norwegian alleles. Several sequence variants were identified, none of them likely to be disease-causing. Some of them even involved partial skipping of exons, leading to subsequent truncation of the ATM protein.
PubMed ID
10980530 View in PubMed
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Characterization of the spectrum of alternative splicing of alpha 1 (XIII) collagen transcripts in HT-1080 cells and calvarial tissue resulted in identification of two previously unidentified alternatively spliced sequences, one previously unidentified exon, and nine new mRNA variants.

https://arctichealth.org/en/permalink/ahliterature24268
Source
J Biol Chem. 1992 Dec 5;267(34):24693-9
Publication Type
Article
Date
Dec-5-1992
Author
M. Juvonen
T. Pihlajaniemi
Author Affiliation
Collagen Research Unit, University of Oulu, Finland.
Source
J Biol Chem. 1992 Dec 5;267(34):24693-9
Date
Dec-5-1992
Language
English
Publication Type
Article
Keywords
Abortion, Spontaneous
Alternative Splicing
Amino Acid Sequence
Base Sequence
Bone and Bones - physiology
Collagen - genetics
Exons
Female
Fetus
Fibrosarcoma
Humans
Introns
Molecular Sequence Data
Oligodeoxyribonucleotides
Polymerase Chain Reaction
Pregnancy
Protein Sorting Signals - genetics
RNA, Messenger - genetics
Research Support, Non-U.S. Gov't
Transcription, Genetic
Tumor Cells, Cultured
Variation (Genetics)
Abstract
Amplification of a COL1-encoding region of alpha 1 (XIII) collagen transcripts of HT-1080 cell RNA suggested that exon 3 of the alpha 1 (XIII) collagen gene, which was previously deduced to be of 35 base pairs (bp) may consist of a constitutive 8-bp exon and an alternatively spliced 27-bp exon, termed here exons 3A and 3B, respectively. Furthermore, a previously unidentified alternatively spliced Gly-Xaa-Yaa-encoding exon designated as 4B was found between the sequences encoded by exons 4, redesignated here as 4A and 5. Six of the 16 potential combinations of the four consecutive alternatively spliced exons 3B, 4A, 4B, and 5 were found to exist in mRNAs, and as a result, the length of the COL1 domain may vary between 57 and 104 amino acid residues. Most of the NC2 domain is encoded by the alternatively spliced exons 12 and 13. Where previous analysis of cDNAs indicated that mRNA variants exist that contain either exon 12 or 13 sequences, amplification studies indicated here that there are also variants that lack both exons 12 and 13 but none that contain both exons simultaneously. Thus, the predicted length of this domain is either 12, 31, or 34 residues. Analyses covering both the COL1 and NC2 domains demonstrate that at least 12 mRNA species exist through the alternations of exons 3B-5, 12, and 13.
PubMed ID
1447209 View in PubMed
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40 records – page 1 of 4.