Literature DB >> 1733831

Chromosomal localization of the human glycoasparaginase gene to 4q32-q33.

C Morris1, N Heisterkamp, J Groffen, J C Williams, I Mononen.   

Abstract

Glycoasparaginase cleaves the N-glycosidic linkage between asparagine and N-acetylglucosamine in the degradation of glycoproteins. In humans, a deficient activity of glycoasparaginase results in accumulation of glycoasparagines, causing the lysosomal storage disease aspartylglycosaminuria. Recombinant plasmid containing the cDNA insert encoding human glycoasparaginase was used to localize the enzyme to chromosome 4q32-q33 by in situ hybridization to metaphase chromosomes prepared from normal human lymphocytes.

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Year:  1992        PMID： 1733831     DOI： 10.1007/bf00197262

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.

Authors:  C Wijmenga; G W Padberg; P Moerer; J Wiegant; L Liem; O F Brouwer; E C Milner; J L Weber; G B van Ommen; L A Sandkuyl
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

Review 2.  Report of the committee on the genetic constitution of chromosome 4.

Authors:  D R Cox; J C Murray; K H Buetow
Journal:  Cytogenet Cell Genet       Date:  1989

3.  Liquid-chromatographic detection of aspartylglycosaminuria.

Authors:  T Mononen; M Parviainen; I Penttilä; I Mononen
Journal:  Clin Chem       Date:  1986-03       Impact factor: 8.327

4.  Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase.

Authors:  K J Fisher; O K Tollersrud; N N Aronson
Journal:  FEBS Lett       Date:  1990-09-03       Impact factor: 4.124

5.  Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

Authors:  I Mononen; N Heisterkamp; V Kaartinen; J C Williams; J R Yates; P R Griffin; L E Hood; J Groffen
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

6.  The human tyrosine kinase gene (FER) maps to chromosome 5 and is deleted in myeloid leukemias with a del(5q).

Authors:  C Morris; N Heisterkamp; Q L Hao; J R Testa; J Groffen
Journal:  Cytogenet Cell Genet       Date:  1990

7.  Laboratory detection of aspartylglycosaminuria.

Authors:  I Mononen; V Kaartinen; T Mononen
Journal:  Scand J Clin Lab Invest Suppl       Date:  1988

8.  Complexity of an apparently simple variant Ph translocation in chronic myeloid leukemia.

Authors:  C M Morris; P H Fitzgerald
Journal:  Leuk Res       Date:  1987       Impact factor: 3.156

9.  High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.

Authors:  T Mononen; I Mononen; R Matilainen; E Airaksinen
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

10.  Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.

Authors:  K Grön; P Aula; L Peltonen
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132
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  4 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Colocalization of the genes coding for the alpha 3 and beta 3 subunits of soluble guanylyl cyclase to human chromosome 4 at q31.3-q33.

Authors:  G Giuili; N Roechel; U Scholl; M G Mattei; G Guellaen
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

3.  Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

Authors:  H Park; M Rossiter; A H Fensom; B Winchester; N N Aronson
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

Authors:  H Park; M B Vettese; A H Fensom; K J Fisher; N N Aronson
Journal:  Biochem J       Date:  1993-03-15       Impact factor: 3.857
  4 in total

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