Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.3.1 (alkaline phosphatase)
47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Linkage analysis was performed on data from Manitoba Mennonite families identified by a proband with infantile hypophosphatasia (HOPS), an autosomal recessive disorder characterized by defective skeletal mineralization. Southern blot analysis of Msp-I-digested DNA from HOPS nuclear families probed with a 2.55-kb liver/bone/kidney alkaline phosphatase (ALPL) cDNA revealed two previously undescribed RFLPs at 2.4/2.3 kb and 2.0/1.9 kb. Maximum combined lod score equals 13.25 at theta = 0. This establishes very close linkage between ALPL and HOPS and allows for the regional assignment of the HOPS gene to chromosome 1p36.1-34. Prenatal RFLP studies in an informative Mennonite family correctly predicted an unaffected fetus following chorionic villus sampling at 12 wk gestation. In addition in our Mennonite population, a nonrandom association exists between the polymorphic ALPL alleles and HOPS. These results suggest that strong linkage disequilibrium exists between HOPS and the ALPL markers. This will allow for improved carrier assignment in this high-risk population. Preliminary analysis suggests approximately 1/25 Manitoba Mennonites are HOPS carriers.
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PMID:Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. 168 4

The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 base pair fragment corresponding to the 5' end of APNH. We have detected a polymorphism within this fragment by denaturing gradient gel electrophoresis. Using polymorphisms at other 1p loci (ALPL, the gene for alkaline phosphatase, RH and D1S57), we have been able to map APNH telomeric to D1S57 and close to RH and ALPL by genetic linkage. APNH is a plausible candidate gene for human essential hypertension; the APNH polymorphism combined with a knowledge of its genetic map location allow this candidate to be tested in hypertensive kindreds and sib-pairs.
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PMID:The Na+/H+ antiporter: a "melt" polymorphism allows regional mapping to the short arm of chromosome 1. 197 10

We have cloned the human liver/bone/kidney alkaline phosphatase (ALPL) gene using a liver-type ALPL cDNA as a probe. The gene is divided into 12 exons, and is likely to exist as a single copy in haploid genome. As compared with the gene isolated using a bone-type ALPL cDNA (Weiss et al., J. Biol. Chem. 263, 12002-12010, 1988), another leader exon specific for the liver-type ALPL mRNA was assigned about 3.4 kb upstream from exon 2 and the alternative splicing in the first exon was indicated. RNA blot analysis showed that three species of mRNA of 2.5, 4.1 and 4.7 kilobases were detected in liver and developmentally regulated.
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PMID:Characterization of a 5'-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene. 234 96

We have used three different methods to map the human liver/bone/kidney alkaline phosphatase (ALPL) locus: (1) Southern blot analysis of DNA derived from a panel of human-rodent somatic cell hybrids; (2) in situ hybridization to human chromosomes; and (3) genetic linkage analysis. Our results indicate that the ALPL locus maps to human chromosome bands 1p36.1-p34 and is genetically linked to the Rh (maximum lod score of 15.66 at a recombination value of 0.10) and fucosidase A (maximum lod score of 8.24 at a recombination value of 0.02) loci. These results, combined with restriction fragment length polymorphisms identified by ALPL DNA probes, provide a useful marker for gene mapping studies involving the short arm of chromosome 1. In addition, our results help to elucidate further the structure and evolution of the human alkaline phosphatase multigene enzyme family.
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PMID:Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. 341 Apr 75

The gene coding for the liver/bone/kidney isozyme of alkaline phosphatase, ALPL, has been mapped to human chromosome 1 using a monoclonal antibody TRA-2-54/2J and electrophoretic analysis to distinguish between the human and rodent isozymes in human/rodent somatic cell hybrids.
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PMID:Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1. 344 11

Intratypic osteosarcoma hybrids were constructed by fusing the human osteoblast-like osteosarcoma SaOS-2 with the rat osteoblast-like osteosarcoma UMR-106. Both of these osteosarcomas express liver/bone/kidney alkaline phosphatase (ALPL), but only the UMR-106 cell line expresses osteopontin (OPN), a gene expressed during later stages of osteoblast differentiation. Analysis of osteoblast gene expression in these hybrids demonstrated that ALPL continued to be expressed; however, OPN steady-state mRNA levels were dramatically reduced in four hybrids. Quantitative measurements indicated that OPN steady-state mRNA levels were extinguished by a factor of 20- to 1000-fold. Since SaOS-2 chromosomes are preferentially lost from these hybrids, subclones of extinguished hybrids were isolated that reexpressed OPN mRNA at levels similar to the UMR-106 parental line. These data indicate that trans-acting negative regulatory factors, expressed from the SaOS-2 genome, are responsible for OPN extinction. This report provides the first demonstration of the negative regulation of OPN gene expression and also provides additional evidence that extinction plays a role in the regulation of osteoblast gene expression.
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PMID:Regulation of osteoblast gene expression in intratypic osteosarcoma hybrid cells. 749 36

A male-specific genetic linkage map of nine loci on bovine Chromosome (Chr) 2 (BTA2) was constructed from 306 offspring belonging to six paternal half-sib families. Loci studied were the structural genes for liver/bone/kidney alkaline phosphatase (ALPL). Gardner-Rasheed feline sarcoma (v-fgr) oncogene homolog (FGR), alpha-L-fucosidase 1 (FUCA1), and fibronectin 1 (FN1), and the microsatellite loci ARO28, DU17S2, DU17S3, DU17S4, and DU17S5. Genotyping was performed by restriction fragment length polymorphism (RFLP) for structural genes and polymerase chain reaction (PCR) for the microsatellites. Two genetically independent linkage groups were identified. The order of genes in the first linkage group, L31, is (ARO28-FN1)-FGR-FUCA1-ALPL, covering a map distance of 34.1 cM between terminal markers. The second linkage group, L32, consists of DU17S2-DU17S5-DU17S4-DU17S3 and is 41.3 cM in length. Genetic linkage between FN1 and FGR confirms previous physical assignment of these genes to the same synteny group. Currently, the genetic linkage of FN1 and FGR is unique to cattle and thus localizes a site of chromosomal evolution to a 22-cM interval between the two loci.
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PMID:A genetic map of nine loci on bovine chromosome 2. 800 Jan 37

Alkaline phosphatase is an enzyme present in nearly all living organisms. The liver/bone/kidney-type isozyme (ALPL) is expressed in the liver, bone, kidney and in most other tissues. We have isolated the ALPL cDNA and its gene and indicated that the gene is divided into two leader exons (exon 1B and 1L) and 11 coding exons and the liver- and bone-specific transcriptions are regulated by their own promoters. The defect of ALPL results in infantile hypophosphatasia, a disorder characterized by defective bone mineralization and subnormal activity of circulating alkaline phosphatase. Prenatal diagnoses of the disease were successfully carried out. Mutation analysis of the family member is in progress.
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PMID:[Molecular cloning of liver/bone/kidney-type alkaline phosphatase complementary and genomic DNA: analyses of its deficiency, infantile hypophosphatasia]. 809 53

A five-point linkage map has been established between the loci encoding liver/bone/kidney alkaline phosphatase (ALPL), enolase 1-alpha (ENO1), glucose-phosphate isomerase (GPI), phosphogluconate dehydrogenase (PGD), and transforming growth factor beta 1 (TGFB1) in swine. Linkage analysis was performed using the Meishan x Yorkshire three-generation reference pedigree at the University of Illinois (n = 91). Previously ENO1, GPI, PGD, and TGFB1 were mapped to porcine chromosome 6q by in situ hybridization but the linkage relations of TGFB1 and ENO1 with other loci in this group were not investigated. Based on mapping data from human chromosomes 1 and 19 and mouse chromosomes 4 and 7, it was postulated that ALPL should reside among or near these loci. Restriction fragment length polymorphisms were identified for ALPL, ENO1, and TGFB1. GPI (EC 5.3.1.9) and PGD (EC 1.1.1.44) phenotypes were determined by agarose gel electrophoresis of isozymes. Marker data were analyzed using the MLINK (two locus) and ILINK (multilocus) programs from LINKAGE (version 5.10). The most likely locus order between GPI-TGFB1-(PGD-ENO1)-ALPL with recombination rates of 0.049, 0.044, 0.000, and 0.156, respectively, could not be significantly determined. The maximum five-point lod score was the same to four decimal places irrespective of the order of ENO1 and PGD. This indicates that ENO1 and PGD are very closely linked and that ALPL is located telomeric to the established linkage group on pig chromosome 6.
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PMID:Linkage relationships between ALPL, ENO1, GPI, PGD, and TGFB1 on porcine chromosome 6. 810 72

In this study, a somatic cell genetic approach was used to study the regulation of liversolidusbonesoliduskidney alkaline phosphatase (ALPL) gene expression in osteoblasts. ALPL plays an important role in skeletal mineralization and serves as a good index of bone formation. A series of intertypic hybrids constructed by fusion of the human osteosarcoma TE-85 with the mouse fibrosarcoma La-t- demonstrated a 10-fold reduction of ALPL steady-state mRNA and enzyme activity, a phenomenon termed extinction. Hybrid subclones which reexpressed ALPL contained reduced numbers of fibroblast chromosomes compared to earlier passages. This suggests that a trans-acting negative regulatory factor expressed from the fibroblast genome regulates ALPL expression. Two factors known to influence ALPL expression are 1,25-dihydroxyvitamin D3 (1,25D3) and transforming growth factor-beta1 (TGFbeta1). 1,25D3 is involved in mobilizing bone calcium stores and TGFbeta1 plays a critical role in bone remodeling. The extinguished hybrids were exposed to 1,25D3, TGFbeta1, and a combination of these factors. For two hybrids, the combination induced reexpression of ALPL activity to levels comparable to the TE-85 parent, indicating a competition between the factors and the extinguisher(s). Neither factor alone could induce ALPL reexpression to the levels observed with the combination. In only one hybrid, the combination of factors synergistically increased ALPL expression. These data help define the cis sequence element(s) in the ALPL promoter which are involved in the negative regulation of this gene.
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PMID:1,25-Dihydroxyvitamin D3 and Transforming Growth Factor-beta Act Synergistically to Override Extinction of LiversolidusBonesolidusKidney Alkaline Phosphatase in Osteosarcoma Hybrid Cells 866 Sep 40


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