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1

The soluble CTLA-4 receptor: a new marker in autoimmune diseases

100%
Pawlak E., Kochanowska I. E., Frydecka I., Kielbinski M., Potoczek S., Bilinska M.
Archivum Immunologiae et Therapiae Experimentalis
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2005
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vol. 53
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issue 4
336-341
EN
A soluble form of cytotoxic T lymphocyte-associated antigen-4 (sCTLA-4) was recently found and shown to possess B7 binding activity. sCTLA-4 is generated by alternatively spliced mRNA. The mRNA encoding sCTLA-4 consists of 3 exons: exon 1 encodes a leader peptide, exon 2 the ligand binding domain, and exon 4 the cytoplasmic tail, but it lacks the transmembrane domain encoded by exon 3. The altered transcript is detected in resting CD4 and CD8 T cells and its expression is inhibited after 24?48 h of activation and returns to the prestimulation level after 72?120 h of activation. Low levels of sCTLA-4 have been detected in normal human serum and increased serum levels have been observed in several autoimmune diseases (e.g. Graves' disease, myasthenia gravis, systemic lupus erythematosus, and systemic sclerosis). The biological significance of increased sCTLA-4 serum level has not been clarified. On one hand, sCTLA-4 may bind B7 expressed on antigen-presenting cells and is thus able to interfere with the B7:CD28-mediated costimulation of T cell responses. On the other hand, sCTLA-4 may also be capable of interfering with B7:CTLA-4 interactions, thereby blocking the negative signal imparted via the full-length form of CTLA-4. This double-edged nature of B7 blocking by sCTLA-4 may result in different outcomes of the clinical course of disease.
2

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17

80%
Kowalska A., Hasegawa M., Miyamoto K., Akiguchi I., Ikemoto A., Takahashi K., Araki W., Tabira T.
Journal of Applied Genetics
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2002
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vol. 43
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issue 4
535-543
EN
Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T C transition at position +11 of the intron following exon 10 (T C 3?E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband?s life). The TC 3?E10 +11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T C 3?E10 +11 mutation, as the other 5? splice site mutations of tau exon 10, modifies alternative splicing of exon 10.
3

Allelic variation of the porcine -1,3-galactosyltransferase 1 (GGTA1) gene

80%
Day A., Rocha D.
Journal of Applied Genetics
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2008
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vol. 49
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issue 1
75-79
EN
The alpha-1,3-galactosyltransferase 1 enzyme (GGTA1) produces the -Gal epitopes, responsible for pig-to-human hyperacute xenograft rejection. Recently, efforts have been directed at inactivating the porcine GGTA1 gene in order to reduce hyperacute rejection. As very little is known about the genetic variability of this key gene among pig breeds, we investigated the variation in its nucleotide sequence, by amplification of the entire coding region with the use of polymerase chain reaction followed by DNA sequencing. Eight commercial pig populations were analysed and 17 single nucleotide polymorphisms (SNPs) were detected: 11 in intronic regions and 6 in the 3' untranslated region (UTR). No SNPs change the encoded protein; however, 8 of these SNPs may alter the transcriptional regulation and pre-mRNA splicing of GGTA1.
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