Gene Deletions in Evolution


Gross gene deletions and microdeletions have occurred during primate evolution. A number of gene deletions occur as polymorphic variants in human populations. The generative mechanisms underlying evolutionarily significant gene deletions appear to be similar to those responsible for pathological gene deletions, suggesting a predisposing role for the local DNA sequence environment.

Keywords: deletion; microdeletion; breakpoint; gene evolution, polymorphisms

Figure 1.

Model for homologous recombination between 4.2 kb repeats (open boxes) flanking the human glutathione S‐transferase M1 (GSTM1) gene leading to gene deletion (Xu et al., ). M1, M2, M4 and M5 denote the GSTM1, GSTM2, GSTM4 and GSTM5 genes respectively. Vertical lines denote EcoR I and Hind III restriction sites. The sizes of the EcoR I/Hind III fragments are shown. (Figure from Cooper DN Human Gene Evolution with the kind permission of BIOS Scientific Publishers, Oxford.)

Figure 2.

Examples of deletions flanked by short direct repeats within noncoding sequences of mammalian β‐globin genes. (From Efstratiadis et al..) Pairwise alignments of sequences within noncoding regions of mammalian β‐globin genes are shown. A deletion is assumed in the upper sequence with respect to the lower sequence. Dashes denote the nucleotides not present in the upper sequence. Short direct repeats are underlined. The two aligned human Aγ large intron sequences are those of two different alleles. (Figure from Cooper DN Human Gene Evolution with the kind permission of BIOS Scientific Publishers, Oxford.)

Figure 3.

Alignment of δ‐globin gene sequences from colobus monkey (C), rhesus macaque (R), baboon (B), spider monkey (S) and human (H). (After Vincent and Wilson ) Transcribed sequences are denoted by upper case letters, flanking regions are in lower case letters. +1 denotes the site of trancriptional initiation. Underlined bases represent an imperfect inverted repeat which may contribute to the formation of a hairpin loop. (Figure from Cooper DN Human Gene Evolution with the kind permission of BIOS Scientific Publishers, Oxford.)



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Web Links

Glutathione S‐transferase M1 (GSTM1); Locus ID: 2944. LocusLink:

Glycoprotein, alpha‐galactosyltransferase 1 (GGTA1); Locus ID: 2681. LocusLink:

Opsin 1 (cone pigments), long‐wave‐sensitive (color blindness, protan) (OPN1LW); Locus ID: 5956. LocusLink:

Opsin 1 (cone pigments), medium‐wave‐sensitive (color blindness, deutan) (OPN1MW); Locus ID: 2652. LocusLink:

T cell receptor beta locus (TRB@); Locus ID: 6957. LocusLink:

Glutathione S‐transferase M1 (GSTM1); MIM number: 138350. OMIM:‐post/Omim/dispmim?138350

Glycoprotein, alpha‐galactosyltransferase 1 (GGTA1); MIM number: 104175. OMIM:‐post/Omim/dispmim?104175

Opsin 1 (cone pigments), long‐wave‐sensitive (color blindness, protan) (OPN1LW); MIM number: 303900. OMIM:‐post/Omim/dispmim?303900

Opsin 1 (cone pigments), medium‐wave‐sensitive (color blindness, deutan) (OPN1MW); MIM number: 303800. OMIM:‐post/Omim/dispmim?303800

T cell receptor beta locus (TRB@); MIM number: 186930. OMIM:‐post/Omim/dispmim?186930

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How to Cite close
Cooper, David N(Jul 2006) Gene Deletions in Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005094]