Literature DB >> 3414687

5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.

G R Sutherland1, E Baker, D F Callen, V J Hyland, B K May, M J Bawden, H M Healy, I A Borthwick.   

Abstract

The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to 3p21, distal to the common fragile site at 3p14.2 (FRA3B). The mapping of this gene to an autosome makes it improbable that it is the site of the primary defect in X-linked sideroblastic anemia.

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Year:  1988        PMID: 3414687      PMCID: PMC1715374     

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


  17 in total

1.  Anonymous DNA probes to human chromosome 16 derived from a flow-purified library.

Authors:  V J Hyland; S Grist; D F Callen; G R Sutherland
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

2.  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

3.  Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.

Authors:  Y Aoki; G Urata; F Takaku
Journal:  Nihon Ketsueki Gakkai Zasshi       Date:  1973-02

4.  Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content.

Authors:  G R Lee; W D MacDiarmid; G E Cartwright; M M Wintrobe
Journal:  Blood       Date:  1968-07       Impact factor: 22.113

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

Review 6.  Sideroblastic anaemia.

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

7.  A highly polymorphic locus in human DNA.

Authors:  A R Wyman; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1980-11       Impact factor: 11.205

8.  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

9.  High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.

Authors:  B U Zabel; S L Naylor; A Y Sakaguchi; G I Bell; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1983-11       Impact factor: 11.205

10.  Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

Authors:  A L Wang; F X Arredondo-Vega; P F Giampietro; M Smith; W F Anderson; R J Desnick
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

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  21 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.  The gene for the human IgA Fc receptor maps to 19q13.4.

Authors:  E J Kremer; V Kalatzis; E Baker; D F Callen; G R Sutherland; C R Maliszewski
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

5.  The interleukin-7 receptor gene is at 5p13.

Authors:  M Lynch; E Baker; L S Park; G R Sutherland; R G Goodwin
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

6.  Localization of the cell surface antigen CD7 by chromosomal in situ hybridization.

Authors:  E Baker; M S Sandrin; O M Garson; G R Sutherland; I F McKenzie; L M Webber
Journal:  Immunogenetics       Date:  1990       Impact factor: 2.846

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

Authors:  T C Cox; M J Bawden; N G Abraham; S S Bottomley; B K May; E Baker; L Z Chen; G R Sutherland
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

8.  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

Review 9.  Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.

Authors:  S S Bottomley; B K May; T C Cox; P D Cotter; D F Bishop
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

10.  Interleukin 4 is at 5q31 and interleukin 6 is at 7p15.

Authors:  G R Sutherland; E Baker; D F Callen; V J Hyland; G Wong; S Clark; S S Jones; L K Eglinton; M F Shannon; A F Lopez
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

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