Journal of Molecular Biology
Volume 180, Issue 4, 25 December 1984, Pages 767-783
Journal home page for Journal of Molecular Biology

Isolation and nucleotide sequence analysis of the β-type globin pseudogene from human, gorilla and chimpanzee

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Abstract

The β-globin gene cluster of human, gorilla and chimpanzee contain the same number and organization of β-type globin genes: 5′-ε (embryonic)-Gγ and Aγ (fetal)-ψβ (inactive)-δ and β (adult)-3′. We have isolated the ψβ-globin gene regions from the three species and determined their nucleotide sequences. These three pseudogenes each share the same substitutions in the initiator codon (ATG → GTA), a substitution in codon 15 which generates a termination signal TGG → TGA, nucleotide deletion in codon 20 and the resulting frame shift which yields many termination signals in exons 2 and 3. The basic structure of these ψβ-globin genes, however, remains consistent with that found for functional β-globin genes; their coding regions are split by two introns, IVS 1 (which splits codon 30, 121 base-pairs in length) and IVS 2 (which splits codon 104, 840 to 844 base-pairs in length). These introns retain the normal splice junctions found in other eukaryotic split genes. The three hominoid ψβ-globin genes show a high degree of sequence correspondence, with the number of differences found among them being only about one-third of that predicted for DNA sites evolving at the neutral rate (i.e. for sites evolving in the absence of purifying selection). Thus, there appears to be a deceleration in the rate of evolution of the ψβ-globin locus in higher primates.

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      2007, Trends in Genetics
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      It is worth emphasizing that the evidence for pseudogene transcription in the large-scale studies mentioned earlier [10,11,29,30] was largely derived from processed RNAs. In addition, carefully designed conventional biochemical experiments have established evidence for the transcription of many pseudogenes, including the β-globin pseudogene (HBBP1; GenBank Accession Number X02133) [33], an interferon pseudogene (IFNAP22; GenBank Accession Number NG_005640) [34], a DNA topoisomerase I pseudogene [35] and a pseudogene derived from a gene encoding a heat-shock transcription factor (HSFY) [10,36]. Does pseudogene transcription provide an indication of a stochastic cellular process or an intrinsic biological function?

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    This study was supported by a grant from the National Institutes of Health, HD16595, and is paper number 2736 from the Laboratory of Genetics, University of Wisconsin.

    Present address: The Public Health Research Institute of the City of New York, Inc., 445 First Avenue, New York, NY 10016, U.S.A.

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