γ-Globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3'-Aγ-globin gene

K. Harano, T. Harano, Ferdane Kutlar, T. H.J. Huismar

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Cord blood samples of 113 Japanese babies from Kurashiki, Japan, were analyzed for the presence of possible modifications in γ-globin gene arrangements and for changes in the relative quantities of the γ chains Gγ, Aγ, and its variant AγT. As many as 9 babies had the γ-globin gene triplication, one a γ-globin gene quadruplication, and two a γ-globin gene deletion. The triplication and quadruplication involved cross-overs within the Gγ- and Aγ-globin genes resulting in a hybrid gene with the 5'-segment being derived from the Aγ and the 3'-segment from the Gγ-globin gene (-AGγ-). The Gγ value of the 9 babies with the -Gγ-AGγ-Aγ-globin gene arrangement averaged 8̃0% and that of the baby with -Gγ-AGγ-AGγ-A γ- was 78%. Four of the 9 babies with the triplication and the baby with the quadruplication had an AγT mutation in trans; in these babies, the Aγ chain level (from the Aγ-globin gene in 3'-position in the tri- and quadruplication arrangements) was decreased to about one-third and one-sixth of the level observed in the simple AγT heterozygote. This observation supports the suggestion that transcription beginning at the 5'-γ-globin gene interferes with that of the 3'-γ-globin gene.

Original languageEnglish (US)
Pages (from-to)45-49
Number of pages5
JournalFEBS Letters
Volume190
Issue number1
DOIs
StatePublished - Oct 7 1985

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Globins
Genes
Newborn Infant
Gene Order
Gene Deletion
Heterozygote
Fetal Blood
Transcription
Japan
Blood
Mutation

Keywords

  • Hybrid gene
  • γ level
  • γ level
  • γ-Globin gene quadruplication
  • γ-Globin gene triplication
  • γT level Decreased transcription

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

Cite this

γ-Globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3'-Aγ-globin gene. / Harano, K.; Harano, T.; Kutlar, Ferdane; Huismar, T. H.J.

In: FEBS Letters, Vol. 190, No. 1, 07.10.1985, p. 45-49.

Research output: Contribution to journalArticle

Harano, K. ; Harano, T. ; Kutlar, Ferdane ; Huismar, T. H.J. / γ-Globin gene triplication and quadruplication in Japanese newborns. Evidence for a decreased in vivo expression of the 3'-Aγ-globin gene. In: FEBS Letters. 1985 ; Vol. 190, No. 1. pp. 45-49.
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abstract = "Cord blood samples of 113 Japanese babies from Kurashiki, Japan, were analyzed for the presence of possible modifications in γ-globin gene arrangements and for changes in the relative quantities of the γ chains Gγ, Aγ, and its variant AγT. As many as 9 babies had the γ-globin gene triplication, one a γ-globin gene quadruplication, and two a γ-globin gene deletion. The triplication and quadruplication involved cross-overs within the Gγ- and Aγ-globin genes resulting in a hybrid gene with the 5'-segment being derived from the Aγ and the 3'-segment from the Gγ-globin gene (-AGγ-). The Gγ value of the 9 babies with the -Gγ-AGγ-Aγ-globin gene arrangement averaged 8̃0{\%} and that of the baby with -Gγ-AGγ-AGγ-A γ- was 78{\%}. Four of the 9 babies with the triplication and the baby with the quadruplication had an AγT mutation in trans; in these babies, the Aγ chain level (from the Aγ-globin gene in 3'-position in the tri- and quadruplication arrangements) was decreased to about one-third and one-sixth of the level observed in the simple AγT heterozygote. This observation supports the suggestion that transcription beginning at the 5'-γ-globin gene interferes with that of the 3'-γ-globin gene.",
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