Literature DB >> 6236690

Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.

S Schwartz, M M Cohen, S R Panny, J H Beisel, S Vora.   

Abstract

A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), previously localized to 10p, and hexokinase-I (HKI), putatively on 10p, demonstrated 153% and 149% of control activity in the proband's fibroblasts. These gene-dosage effects confirmed the clinical and cytogenetic observations as well as the localization of HKI to 10p. Additionally, phosphofructokinase (PFK) and hexokinase (HK), which are control points in the glycolytic pathway, were shown to be syntenic.

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Year:  1984        PMID： 6236690      PMCID： PMC1684484     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  26 in total

1.  Localization of the structural genes for hexokinase-1 and inorganic pyrophosphatase on region (pter-->q24) of human chromosome 10.

Authors:  C J Chern
Journal:  Cytogenet Cell Genet       Date:  1976

Review 2.  Enzymology of cancer cells (second of two parts).

Authors:  G Weber
Journal:  N Engl J Med       Date:  1977-03-10       Impact factor: 91.245

3.  Demonstration of replication patterns corresponding to G- and R-type banding of chromosomes after partial synchronization of cell cultures with BrdU or dT surplus.

Authors:  W Schempp; I Sigwarth; W Vogel
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

Review 4.  The hexokinases: kinetic, physical, and regulatory properties.

Authors:  D L Purich; H J Fromm; F B Rudolph
Journal:  Adv Enzymol Relat Areas Mol Biol       Date:  1973

5.  Studies on erythrocyte glycolysis. II. Free energy changes and rate limitings steps in erythrocyte glycolysis.

Authors:  S Minakami; H Yoshikawa
Journal:  J Biochem       Date:  1966-02       Impact factor: 3.387

6.  Partial duplication of the short arm of chromosome 10. Karyotype: 46,XX,dup(10p)(pter to p12::p12::p12 to qter).

Authors:  J P Fryns; J Deroover; J Haegeman; H Van den Berghe
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

7.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

8.  Comparison of thymidine, fluorodeoxyuridine, hydroxyurea, and methotrexate blocking at the G1/S phase transition of the cell cycle, studied by replication patterns.

Authors:  W Vogel; W Schempp; I Sigwarth
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

9.  10q(q23 leads to qter) duplication: GOTs, HK1, and other gene markers.

Authors:  R S Sparkes; H N Bass; M C Sparkes
Journal:  Hum Genet       Date:  1978-06-27       Impact factor: 4.132

10.  Trisomy 10p due to a de novo t(10p;13p).

Authors:  V Aller; J A Abrisqueta; A Pérez-Castillo; J del Mazo; M A Martín-Lucas; M L de Torres
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132
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  3 in total

Review 1.  Mouse chromosome 10.

Authors:  B A Taylor; M J Justice; R Reeves
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

2.  A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross.

Authors:  M J Justice; L D Siracusa; D J Gilbert; N Heisterkamp; J Groffen; K Chada; C M Silan; N G Copeland; N A Jenkins
Journal:  Genetics       Date:  1990-08       Impact factor: 4.562

3.  Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.

Authors:  J Leana-Cox; S Levin; R Surana; E Wulfsberg; C L Keene; L J Raffel; B Sullivan; S Schwartz
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
  3 in total

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