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Updated: Aug 18, 2026

Targeted in Situ Mutagenesis of Histone Genes in Budding Yeast
Published on: January 26, 2017
Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5'-UTR in the eastern Indian population
Anjali A Sarkar1, Chaitali Mukhopadhyay, Sharmila Chandra
1Department of Biophysics, Molecular Biology and Genetics, Calcutta University, Calcutta, India.
Abstract:
Haemoglobin (Hb) Sun Prairie (alpha2-globin cd130, GCT-->CCT, Ala-->Pro) is detected in three unrelated chromosomes, in association with a C-->T transition in the 5'-untranslated region (UTR), two bases upstream from the translation start site. Reported inversion of alpha/beta-mRNA ratio observed in Hb Sun Prairie mutants might stem from the second mutation and should be investigated. Molecular modelling studies indicate that the 130th residue of alpha-globin faces primarily the central cavity of the molecule and is not in contact with any beta-chain residue; further, no significant disruption of the Hb structure because of the Sun Prairie mutation is discernible. Depression of translation because of the second mutation of a conserved base in the 5'-UTR might explain the observed clinical severity.
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