Disease relevance of F13A1

• A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a decreased risk for coronary artery disease, cerebrovascular disease, and deep venous thrombosis [1].
• These data show that exclusion of close linkage to the HLA complex and F13A1 in a kindred with spinocerebellar ataxia does not rule out the possibility that the disease locus in that family is on 6p [2].
• The following variable number of tandem repeats (VNTR) were analyzed in the blood of 120 volunteers without cancer and in 27 patients with prostate cancer: D4S43, PAH, F13A1, APOB and vW-1 [3].
• A 27-kilodalton tryptic fragment, derived from the amino terminus of the 200-kilodalton fibronectin subunit, inhibited binding of intact fibronectin to Staphylococcus aureus and could be cross-linked to Staphylococcus aureus by blood coagulation Factor XIIIa [4].
• Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously [5].

High impact information on F13A1

• A multipoint lod score of 3.9 (P = 2.3 x 10(-5)) was achieved when the F13A1 and D6S260 loci were analysed, allowing for locus heterogeneity [6].
• However, the disease locus was found to be closely linked to a microsatellite polymorphism, D6S89, which is between HLA and F13A1 [2].
• The present findings, in combination with earlier knowledge of PGM3/GLO/HLA localization and gene distances, show that F13A is distal to HLA on the short arm of chromosome 6 in man [7].
• A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man [7].
• Female data indicate a clear sex difference in recombination frequency between F13A and HLA [7].

Chemical compound and disease context of F13A1

• We investigated the plasma concentration and functional activity of blood coagulation Factor XIIIa, active subunit of the Factor XIII, in patients with Crohn's disease and in healthy volunteers [8].

Biological context of F13A1

• Also, the coagulation factor XIII (gene symbol F13A1) Val34Leu haplotype tag single nucleotide polymorphism (htSNP) has been reported to exert pleiotropic effects on serum IL-6 concentration and to be associated with risk of MI [9].
• 2. Subsequent multipoint analysis placed EDN1 at 8 cM distal to D6S89; EDN1 was flanked at its telomeric site at a 13-cM distance by the gene encoding the A subunit of blood clotting factor XIII (F13A1) [10].
• The F13A1 genotype was determined by an allele-specific polymerase chain reaction [1].
• When linkage analysis between the inheritance of ureteral abnormalities and six marker loci glyoxalase I (GLO- ), major histocompatibility antigens (HLA-A, B, and DR/DQ), D6S288, and factor XIII antigen (F13A1) on the short arm of chromosome 6 was performed, the lod scores significantly rejected linkage over a 77.1-cM distance [11].
• Diversity of two short tandem repeat loci (CD4 and F13A1) in three Brazilian ethnic groups [12].

Anatomical context of F13A1

• Incubation of cultured human fibroblasts with blood coagulation factor XIIIa (plasma transglutaminase, fibrinoligase) and the fluorescent primary amine, N-(5-aminopentyl)-5-dimethylaminonaphthalene-1-sulfonamide, resulted in fluorescent labeling of three cellular polypeptides [13].
• Half-of-the-sites and all-of-the-sites reactivity in human plasma blood coagulation factor XIIIa [14].
• The polymorphism of the coagulation factor XIIIA and B subunits was determined before and after bone marrow or liver transplantation [15].
• Eight chromosome 6p markers (MUT, D6S4, D6S5, D6S19, D6S29, PIM, HLA, and F13A) were regionally mapped using somatic cell hybrid deletion cell lines that retained different regions of chromosome 6p [16].
• We employed antibodies against the human progenitor cell antigen CD34, coagulation factor XIIIa and HHF-35 actin [17].

Associations of F13A1 with chemical compounds

• The glutamine-3 residue near the amino terminus of each chain was labeled enzymatically with either monodansylcadaverine or monofluoresceinylcadaverine by use of coagulation factor XIIIa [18].
• The glutamine-3 residue, near the amino terminus of each chain, was labeled enzymatically with either monodansylcadaverine (dansyl) or monofluoresceinyl-cadaverine (fluorescein) by use of coagulation factor XIIIa [19].
• Coagulation factor XIIIa undergoes a conformational change evoked by glutamine substrate. Studies on kinetics of inhibition and binding of XIIIA by a cross-reacting antifibrinogen antibody [20].
• Alpha-chain domain of fibrinogen controls generation of fibrinoligase (coagulation factor XIIIa). Calcium ion regulatory aspects [21].
• The plasmas of two groups of subjects were examined for blood coagulation Factor XIII-A (FXIII-A, F13A) by electrophoresis in agarose using a Tris-EDTA-borate buffer to separate the common variants, F13A*1, F13A*2, and F13A*3 [22].
• More than twenty proteins were shown to be Factor XIIIA substrates predicting new functions for the enzyme. A list of identified FXIIIA substrates can be found in TRANSDAB   database [23]

Physical interactions of F13A1

• Tissue transglutaminase appeared to interact with all of the three coagulation-factor-XIIIa-sensitive sites and, in addition, some others which are either available on the intact molecule or can be revealed only in proteolytic fragments of the fibronectin [24].

Other interactions of F13A1

• Four of them showed significant deviations from Hardy-Weinberg expectations in controls, according to the exact test (D4S192, BCL3, F13A1, and D6S89) [25].
• At the F13A and ORM1 loci, Senegalese have allele frequencies similar to those reported for American blacks [26].
• Significant epistasis on plasma fibrinogen concentration was detected between the FGA 2224G > A and F13A1 Val34Leu [rs5985] SNPs (p < 0.001) [27].
• Thus, we have found a new coagulation-factor-XIIIa-sensitive site localized in the cell-binding central fragment, inaccessible to enzyme in the intact fibronectin molecule [24].
• Allele frequencies and some forensic parameters for 12 autosomal microsatellites (CSF1PO, TPOX, THO1, VWA, D16S539, D7S820, D13S317, D5S818, F13A1, FESFPS, F13B, LPL) were estimated from three departments from Northwestern Colombia [28].

Analytical, diagnostic and therapeutic context of F13A1

• Donors' and recipients' DNA was amplified with fluorescent PCR primers specific for short tandem repeat (STR) marker loci: FGA, VWA, TH01, F13A1, D21S11 [29].
• We have previously suggested on the basis of the isoelectric focusing patterns of the four allele products that point mutations at two separate sites and one intragenic crossing over might be involved in the genes of F13A polymorphism [30].
• DNA typing was performed at vWA, THo1, F13A1, and FES loci using the short tandem repeat (STR) analysis [31].
• Coagulation factor XIIIA and XIIIB polymorphisms in a random population sample from Chengdu in southwest China (n = 121) were studied using isoelectric focusing in polyacrylamide gels followed by immunoblotting with enzyme immunoassay [32].
• The denaturation-renaturation transition between the native and unfolded states of the dimeric blood coagulation factor XIIIa has been examined by far-UV circular dichroism, fluorescence spectroscopy, activity measurements, sedimentation equilibrium analysis, and size exclusion high performance liquid chromatography [33].

References