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Literature DB >> 2294742

Erythroid 5-aminolevulinate synthase is located on the X chromosome.

T C Cox¹, M J Bawden, N G Abraham, S S Bottomley, B K May, E Baker, L Z Chen, G R Sutherland.

Abstract

The gene for erythroid 5-aminolevulinate synthase has been mapped to Xpter-Xq26 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to Xp21-Xq21, with the most likely location being on band Xp11.2. The mapping of the erythroid 5-amino-levulinate synthase gene to the X chromosome suggests that a defect in this gene may be the primary cause of X-linked sideroblastic anemia.

Entities: Disease Species

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Year: 1990 PMID： 2294742 PMCID： PMC1683546

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

20 in total

1. Sequence of human 5-aminolevulinate synthase cDNA.

Authors: M J Bawden; I A Borthwick; H M Healy; C P Morris; B K May; W H Elliott
Journal: Nucleic Acids Res Date: 1987-10-26 Impact factor: 16.971

2. Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2.

Authors: S Povey; N E Morton; S L Sherman
Journal: Cytogenet Cell Genet Date: 1985

3. A mouse-human hybrid cell panel for mapping human chromosome 16.

Authors: D F Callen
Journal: Ann Genet Date: 1986

4. Globin synthesis in sideroblastic anaemia. I. Alpha and beta peptide chain synthesis.

Authors: J M White; M C Brain; M A Ali
Journal: Br J Haematol Date: 1971-03 Impact factor: 6.998

5. Assignment of the human coproporphyrinogen oxidase to chromosome 9.

Authors: B Grandchamp; D Weil; Y Nordmann; N Van Cong; H de Verneuil; C Foubert; M S Gross
Journal: Hum Genet Date: 1983 Impact factor: 4.132

6. delta-Aminolevulinate synthase isozymes in the liver and erythroid cells of chicken.

Authors: N Watanabe; N Hayashi; G Kikuchi
Journal: Biochem Biophys Res Commun Date: 1983-06-15 Impact factor: 3.575

Review 7. Sideroblastic anaemia.

Authors: S S Bottomley
Journal: Clin Haematol Date: 1982-06

8. Evidence for erythroid and nonerythroid forms of delta-aminolevulinate synthetase.

Authors: D F Bishop; H Kitchen; W A Wood
Journal: Arch Biochem Biophys Date: 1981-02 Impact factor: 4.013

9. Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization.

Authors: V R Potluri; K H Astrin; J G Wetmur; D F Bishop; R J Desnick
Journal: Hum Genet Date: 1987-07 Impact factor: 4.132

10. Regulation of heme metabolism in normal and sideroblastic bone marrow cells in culture.

Authors: N G Ibraham; J D Lutton; R Hoffman; R D Levere
Journal: J Lab Clin Med Date: 1985-05

22 in total

1. Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.

Authors: D F Bishop
Journal: Nucleic Acids Res Date: 1990-12-11 Impact factor: 16.971

2. Genetic regulation of delta-aminolevulinate dehydratase during erythropoiesis.

Authors: T R Bishop; M W Miller; J Beall; L I Zon; P Dierks
Journal: Nucleic Acids Res Date: 1996-07-01 Impact factor: 16.971

3. Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

Authors: K H Astrin; C A Warner; H W Yoo; P J Goodfellow; S F Tsai; R J Desnick
Journal: Hum Genet Date: 1991-05 Impact factor: 4.132

4. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

Authors: P D Cotter; M Baumann; D F Bishop
Journal: Proc Natl Acad Sci U S A Date: 1992-05-01 Impact factor: 11.205