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Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and

Henri Wajcman1, Alexandre G de Brevern2,3,4, Jean Riou5

  • 1a Institut National de la Sante et de la Recherche Médicale (INSERM) U 955 eq 2 , Institut Mondor de Recherche Biomoléculaire (IMRB) , Créteil , France.

Hemoglobin
|February 1, 2019
PubMed

Insights

A novel hemoglobin variant, Hb Choisy, involves an insertion and appears less harmful than its deletion counterpart, Hb J-Biskra. This finding suggests insertions may be less damaging than deletions in hemoglobin structure.

Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Hemoglobin (Hb) variants can arise from in-frame deletion/insertion (del/ins) events.
  • Hb J-Biskra is a previously identified deletional variant affecting codons 51-58 of the α1 gene.

Purpose of the Study:

  • To describe a new hemoglobin variant, Hb Choisy, characterized by an insertion.
  • To compare the structural impact and potential pathogenicity of Hb Choisy (insertion) with Hb J-Biskra (deletion).

Main Methods:

  • Characterization of a novel hemoglobin variant (Hb Choisy) through genetic analysis.
  • Comparison of the structural consequences of insertion versus deletion at homologous positions in the globin chain.
  • Analysis of the HbVar database for similar insertion/deletion variants.

Main Results:

  • Hb Choisy involves the insertion of the sequence Ser-Ala-Gln-Val-Lys-Gly-His-Gly at position α52(E1).
  • Hb Choisy appears less damaging than the deletional variant Hb J-Biskra, which removes the same sequence.
  • The insertion's location in the C to E interhelical region may explain its reduced structural impact.
  • Repetitive nucleotide sequences likely facilitate this type of insertion/deletion event.

Conclusions:

  • Insertion variants, like Hb Choisy, may be less detrimental to hemoglobin structure and function than deletion variants.
  • The location of the modification within the globin chain influences its overall structural integrity.
  • Understanding these variants aids in predicting the pathogenicity of novel hemoglobin mutations.

Keywords:
hemoglobin (Hb) variantinsertion/deletion (ins/del)molecular modelingα-Globin

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