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WFRF:(Millán José Luis)
 

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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003268naa a2200361 4500
001oai:DiVA.org:umu-20842
003SwePub
008090326s2002 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-208422 URI
0247 a https://doi.org/10.1002/humu.100522 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Wennberg, Charlotte4 aut
2451 0a Structure, genomic DNA typing and kinetic characterization of the D allozyme of placental alkaline phosphatase
264 c 2002-02-13
264 1b Hindawi Limited,c 2002
338 a print2 rdacarrier
520 a The D allozyme of placental alkaline phosphatase (PLAP) displays enzymatic properties at variance with those of the common PLAP allozymes. We have deduced the amino acid sequence of the PLAP D allele by PCR cloning of its gene, ALPP. Two coding substitutions were found in comparison with the cDNA of the common PLAP F allele, i.e., 692C>G and 1352A>G, which translate into a P209R and E429G substitution. A single nucleotide primer extension (SNuPE) assay was developed using PCR primers that enable the amplification of a 1.9 kb PLAP fragment. Extension primers were then used on this PCR fragment to detect the 692C>G and 1352A>G substitution. The SNuPE assay on these two nucleotide substitutions enabled us to distinguish the PLAP F and D alleles from the PLAP S/I alleles. Functional studies on the D allozyme were made possible by constructing and expressing a PLAP D cDNA, i.e., [Arg209, Gly429]PLAP, into wild-type Chinese hamster ovary cells. We determined the kcat and Km, of the PLAP S, F, and D allozymes using the non-physiological substrate p-nitrophenylphosphate at an optimal pH (9.8) as well as two physiological substrates, i.e., pyridoxal-5-phosphate and inorganic pyrophosphate at physiological pH (7.5). We found that the biochemical properties of the D allozyme of PLAP are significantly different from those of the common PLAP allozymes. These biochemical findings suggest that a suboptimal enzymatic function by the PLAP D allozyme may be the basis for the apparent negative selective pressure of the PLAP D allele. The development of the SNuPE assay will enable us to test the hypothesis that the PLAP D allele is subjected to intrauterine selection by examining genomic DNA from statistically informative population samples.
653 a alkaline phosphatase
653 a placental; PLAP; ALPP; ALPL; ALPPL2; ALPI; isozyme; negative selection; spontaneous abortion; gene therapy; genetic disease; placental function; SNuPE
7001 a Kozlenkov, Alexeyu Umeå universitet,Institutionen för medicinsk biovetenskap4 aut
7001 a Mauro, Sonia Di4 aut
7001 a Fröhlander, Nils4 aut
7001 a Beckman, Lars4 aut
7001 a Hoylaerts, Marc F.4 aut
7001 a Millán, José Luis4 aut
7102 a Umeå universitetb Institutionen för medicinsk biovetenskap4 org
7730 t Human Mutationd : Hindawi Limitedg 19:3, s. 258-267q 19:3<258-267x 1059-7794x 1098-1004
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-20842
8564 8u https://doi.org/10.1002/humu.10052

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