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Nucleic Acids Research, 1984, Vol. 12, No. 11 4469-4479
© 1984

MOLECULAR BIOLOGY

Human fetal globin DNA sequences suggest novel conversion event

C.J. Stoeckert, Jr., F.S. Collins and S.M. Weissman

Department of Human Genetics, Yale University School of Medicine 333 Cedar Street, New Haven, CT 06510, USA

Received March 14, 1984. Accepted May 7, 1984.

DNA sequencing studies of two recently cloned human A{gamma} globln alleles has revealed a number of base differences which are clustered in the large intron (IVS-2). One allele has a previously undescribed IVS-2 sequence. Most of the allelic differences can be explained as resulting from a gene conversion event involving G{gamma} as a donor. A novel feature of this event is that three C{gamma}-Hke regions occur interspersed among unconverted areas of the A{gamma} gene. We propose that an alternating purine-pyrimidine run which is located between two of the converted sites is the initiation site of the conversion event. Consistent with models of gene conversion, this poly (purine-pyrimidine) tract has single-stranded characteristics in supercoiled plasmids as assayed by S1-nuclease.


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