Showing papers by "Oliver Smithies published in 1980"
TL;DR: A model for the involvement of short direct repeat sequences in the generation of deletions in the noncoding and coding regions of B-like globin genes during evolution is described.
1,097 citations
01 Jan 1980
TL;DR: Efstratiadis et al. as mentioned in this paper presented the results of a detailed comparison of the primary structure of human p-like globin genes and their flanking sequences.
Abstract: Argiris Efstratiadis Department of Biological Chemistry Harvard Medical School Boston, Massachusetts 02115 James W. Posakony, Tom Maniatis, Richard M. Lawn* and Catherine O’Connell+ Division of Biology California Institute of Technology Pasadena, California 91125 Richard A. Spritz, Jon K. DeRiel,# Bernard G. Forget and Sherman M. Weissman Departments of Genetics and Internal Medicine Yale University School of Medicine New Haven, Connecticut 06510 Jerry L. Slightom, Ann E. Blechl and Oliver Smithies Laboratory of Genetics University of Wisconsin Madison, Wisconsin 53706 Francisco E. Baralle, Carol C. Shoulders and Nicholas J. ProudfootQ MRC Laboratory of Molecular Biology Hills Road Cambridge CB2 2QH, England Summary We present the results of a detailed comparison of the primary structure of human p-like globin genes and their flanking sequences. Among the se- quences located 5’ to these genes are two highly conserved regions which include the sequences ATA and CCAAT located 31 2 1 and 77 + 10 bp, respectively, 5’ to the mRNA capping site. Similar sequences are found in the corresponding locations in most other eucaryotic structural genes. Calcula- tion of the divergence times of individual @like globin gene pairs provides the first description of the evolutionary relationships within a gene family based entirely on direct nucleotide sequence com- parisons. In addition, the evolutionary relationship of the embryonic e-globin gene to the other human P-like globin genes is defined for the first time. Finally, we describe a model for the involvement of short direct repeat sequences in the generation of deletions in the noncoding and coding regions of B-like globin genes during evolution.
961 citations
TL;DR: The sequence data suggest that intergenic conversions occur in the germ line, and strongly suggest that DNA sequence polymorphisms for localized deletions, additions and base substitutions are very common in human populations.
810 citations
TL;DR: A mouse α-globin-related pseudogene completely lacks intervening sequences, and could not code for a functional globin polypeptide because of frameshifts; the widespread occurrence of globin pseudogenes in other species suggests that they are not ‘dead’ genes but may be important in controlling globin expression.
Abstract: A mouse α-globin-related pseudogene (ψα30.5) completely lacks intervening sequences, and could not code for a functional globin polypeptide because of frameshifts. The widespread occurrence of globin pseudogenes in other species suggests that they are not ‘dead’ genes but may be important in controlling globin expression.
131 citations
01 Jan 1980