Literature DB >> 3410475

Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.

M Smith1, M J Weiss, C A Griffin, J C Murray, K H Buetow, B S Emanuel, P S Henthorn, H Harris.   

Abstract

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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Year:  1988        PMID： 3410475     DOI： 10.1016/0888-7543(88)90095-x

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  17 in total

1.  Assignment of the gene encoding the catalytic subunit C beta of cAMP-dependent protein kinase to the p36 band on chromosome 1.

Authors:  J Simard; D Bérubé; M Sandberg; K H Grzeschik; R Gagné; V Hansson; T Jahnsen
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Isozyme profile and tissue-origin of alkaline phosphatases in mouse serum.

Authors:  Cecilia Halling Linder; Ulrika H Englund; Sonoko Narisawa; José Luis Millán; Per Magnusson
Journal:  Bone       Date:  2013-01-10       Impact factor: 4.398

3.  Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.

Authors:  C R Greenberg; J A Evans; S McKendry-Smith; S Redekopp; J C Haworth; R Mulivor; B N Chodirker
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

4.  Human tissue non-specific alkaline phosphatases: sugar-moiety-induced enzymic and antigenic modulations and genetic aspects.

Authors:  O Nosjean; I Koyama; M Goseki; B Roux; T Komoda
Journal:  Biochem J       Date:  1997-01-15       Impact factor: 3.857

5.  Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

Authors:  M J Weiss; K Ray; M D Fallon; M P Whyte; K N Fedde; M A Lafferty; R A Mulivor; H Harris
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

Review 6.  Alkaline phosphatase: an overview.

Authors:  Ujjawal Sharma; Deeksha Pal; Rajendra Prasad
Journal:  Indian J Clin Biochem       Date:  2013-11-26

7.  A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Authors:  M J Weiss; D E Cole; K Ray; M P Whyte; M A Lafferty; R A Mulivor; H Harris
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

8.  Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.

Authors:  B N Chodirker; J A Evans; L E Seargeant; M S Cheang; C R Greenberg
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

Review 9.  Hypophosphatasia: an overview of the disease and its treatment.

Authors:  M L Bianchi
Journal:  Osteoporos Int       Date:  2015-08-06       Impact factor: 4.507

10.  Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Authors:  David A Stevenson; John C Carey; Stephen P Coburn; Karen L Ericson; Janice L B Byrne; Steven Mumm; Michael P Whyte
Journal:  J Clin Endocrinol Metab       Date:  2008-06-17       Impact factor: 5.958
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