Literature DB >> 1577484

Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.

P D Cotter1, H F Willard, J L Gorski, D F Bishop.   

Abstract

The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding delta-aminolevulinate synthase have recently been mapped to chromosomes Xp21.1----q21 and 3p21, respectively. The erythroid-specific gene is a candidate for mutations resulting in X-linked sideroblastic anemia. Analysis of DNA from hybrid clones containing translocations in the region Xp11.21----Xq21.3 permitted the finer localization of the ALAS2 gene with respect to other loci and breakpoints within this region. These studies localized the ALAS2 gene to the distal subregion of Xp11.21 in Interval 5 indicating the following gene order: Xpter-OATL2-[L62-3A, Xp11.21; A62-1A-4b, Xp11.21]-(ALAS2, DXS323)-[B13-3, Xp11.21; C9-5, Xp11.21]-(DXS14, DXS429)-DXS422-(DXZ1, Xcen). Thus, the reported linkage of acquired sideroblastic anemia and sideroblastic anemia with ataxia to Xq13 presumably results from genes other than ALAS2.

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Year:  1992        PMID： 1577484     DOI： 10.1016/0888-7543(92)90223-f

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


  17 in total

1.  Circular permutation of 5-aminolevulinate synthase. Mapping the polypeptide chain to its function.

Authors:  A V Cheltsov; M J Barber; G C Ferreira
Journal:  J Biol Chem       Date:  2001-03-15       Impact factor: 5.157

2.  Conversion of 5-aminolevulinate synthase into a more active enzyme by linking the two subunits: spectroscopic and kinetic properties.

Authors:  Junshun Zhang; Anton V Cheltsov; Gloria C Ferreira
Journal:  Protein Sci       Date:  2005-05       Impact factor: 6.725

Review 3.  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

Review 4.  The long history of iron in the Universe and in health and disease.

Authors:  Alex D Sheftel; Anne B Mason; Prem Ponka
Journal:  Biochim Biophys Acta       Date:  2011-08-09

5.  A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.

Authors:  E Prades; C Chambon; T A Dailey; H A Dailey; J Brière; B Grandchamp
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

6.  Genetic linkage of the erythroid-specific delta-aminolevulinate synthase gene (Alas2) to the distal region of the mouse X chromosome.

Authors:  V M Chapman; B T Keitz; D F Bishop
Journal:  Mamm Genome       Date:  1994-11       Impact factor: 2.957

7.  Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.

Authors:  K Furuyama; S Sassa
Journal:  J Clin Invest       Date:  2000-03       Impact factor: 14.808

8.  Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.

Authors:  J S Noble; G R Taylor; M S Losowsky; R Hall; G Turner; R F Mueller; A D Stewart
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 9.  Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

Authors:  P E Jardine; P D Cotter; S A Johnson; E J Fitzsimons; L Tyfield; P W Lunt; D F Bishop
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

10.  Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.

Authors:  Kiriko Kaneko; Kazumichi Furuyama; Tohru Fujiwara; Ryoji Kobayashi; Hiroyuki Ishida; Hideo Harigae; Shigeki Shibahara
Journal:  Haematologica       Date:  2013-08-09       Impact factor: 9.941
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