Literature DB >> 3839762

A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man.

J Peters, S J Andrews, J F Loutit, J B Clegg.   

Abstract

A mutation induced by ethylnitrosourea in a spermatogonial stem cell of a 101/H mouse has resulted in a structurally altered beta-diffuse major globin in one of his offspring. The mutant hemoglobin is associated with polycythemia, rubor, increased oxygen affinity and decreased hem-hem interaction. The mutant haplotype has been designated Hbbd4, polycythemia. Amino acid analysis of the mutant globin has shown that a single substitution beta 145 Tyr----Cys has occurred, and it is proposed that ethylnitrosourea induced an A----G transition in the tyrosine codon (TAC----TGC). This murine polycythemia is homologous with hemoglobin Rainier in man, in which the amino acid substitution is also beta 145 Tyr----Cys and which is associated with similar physiological consequences.

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Year:  1985        PMID： 3839762      PMCID： PMC1202588     

Source DB:  PubMed          Journal:  Genetics        ISSN： 0016-6731            Impact factor:   4.562


  16 in total

1.  Radiation-induced mutations at mouse hemoglobin loci.

Authors:  L B Russell; W L Russell; R A Popp; C Vaughan; K B Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  1976-08       Impact factor: 11.205

2.  Sequence of amino acids in the chain of single hemoglobins from C57BL, SWR, and NB mice.

Authors:  R A Popp
Journal:  Biochim Biophys Acta       Date:  1973-03-23

3.  Sequence of amino acids in the major and minor chains of the diffuse hemoglobin from BALB-c mice.

Authors:  R A Popp; E G Bailiff
Journal:  Biochim Biophys Acta       Date:  1973-03-23

4.  Haemoglobin Rainier: beta-145 (HC2) tyrosine leads to cysteine and haemoglobin Bethesda: beta-145 (HC2) tyrosine leads to histidine.

Authors:  A Hayashi; G Stamatoyannopoulos; A Yoshida; J Adamson
Journal:  Nat New Biol       Date:  1971-04-28

5.  Three dimensional structure of haemoglobin Rainier.

Authors:  J Greer; M F Perutz
Journal:  Nat New Biol       Date:  1971-04-28

6.  Comparison of total sequence of a cloned rabbit beta-globin gene and its flanking regions with a homologous mouse sequence.

Authors:  A van Ooyen; J van den Berg; N Mantei; C Weissmann
Journal:  Science       Date:  1979-10-19       Impact factor: 47.728

7.  Resolution of products of the duplicated hemoglobin alpha-chain loci by isoelectric focusing.

Authors:  J B Whitney; G T Copland; L C Skow; E S Russell
Journal:  Proc Natl Acad Sci U S A       Date:  1979-02       Impact factor: 11.205

8.  Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).

Authors:  J B Clegg; M A Naughton; D J Weatherball
Journal:  J Mol Biol       Date:  1966-08       Impact factor: 5.469

9.  Simplified typing of mouse hemoglobin (Hbb) phenotypes using cystamine.

Authors:  J B Whitney
Journal:  Biochem Genet       Date:  1978-08       Impact factor: 1.890

10.  A mouse model for beta-thalassemia.

Authors:  L C Skow; B A Burkhart; F M Johnson; R A Popp; D M Popp; S Z Goldberg; W F Anderson; L B Barnett; S E Lewis
Journal:  Cell       Date:  1983-10       Impact factor: 41.582
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  12 in total

Review 1.  Creating animal models of genetic disease.

Authors:  R P Erickson
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

2.  Thrombocytopenia and erythrocytosis in mice with a mutation in the gene encoding the hemoglobin β minor chain.

Authors:  Maria Kauppi; Adrienne A Hilton; Donald Metcalf; Ashley P Ng; Craig D Hyland; Janelle E Collinge; Benjamin T Kile; Douglas J Hilton; Warren S Alexander
Journal:  Proc Natl Acad Sci U S A       Date:  2011-12-27       Impact factor: 11.205

3.  Characterization of mutations induced by ethylnitrosourea in seminiferous tubule germ cells of transgenic B6C3F1 mice.

Authors:  G S Provost; J M Short
Journal:  Proc Natl Acad Sci U S A       Date:  1994-07-05       Impact factor: 11.205

4.  The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type.

Authors:  E Zdarsky; J Favor; I J Jackson
Journal:  Genetics       Date:  1990-10       Impact factor: 4.562

5.  Sequence characterization of ENU-induced mutants of glucose phosphate isomerase in mouse.

Authors:  S R Pearce; J Peters; S Ball; M J Morgan; J I Walker; P Faik
Journal:  Mamm Genome       Date:  1995-12       Impact factor: 2.957

6.  The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.

Authors:  B A Taylor; L Rowe
Journal:  Proc Natl Acad Sci U S A       Date:  1987-04       Impact factor: 11.205

7.  Oxygen association-dissociation and stability analysis on mouse hemoglobins with mutant alpha- and beta-globins.

Authors:  S J D'Surney; R A Popp
Journal:  Genetics       Date:  1992-10       Impact factor: 4.562

8.  Temporal and molecular characteristics of mutations induced by ethylnitrosourea in germ cells isolated from seminiferous tubules and in spermatozoa of lacZ transgenic mice.

Authors:  G R Douglas; J Jiao; J D Gingerich; J A Gossen; L M Soper
Journal:  Proc Natl Acad Sci U S A       Date:  1995-08-01       Impact factor: 11.205

9.  N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Authors:  S E Lewis; R P Erickson; L B Barnett; P J Venta; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

10.  Spectra of spontaneous and mutagen-induced mutations in the lacI gene in transgenic mice.

Authors:  S W Kohler; G S Provost; A Fieck; P L Kretz; W O Bullock; J A Sorge; D L Putman; J M Short
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-15       Impact factor: 11.205
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