Literature DB >> 6985477

The structure and evolution of the human beta-globin gene family.

A Efstratiadis, J W Posakony, T Maniatis, R M Lawn, C O'Connell, R A Spritz, J K DeRiel, B G Forget, S M Weissman, J L Slightom, A E Blechl, O Smithies, F E Baralle, C C Shoulders, N J Proudfoot.   

Abstract

We present the results of a detailed comparison of the primary structure of human beta-like globin genes and their flanking sequences. Among the sequences located 5' to these genes are two highly conserved regions which include the sequences ATA and CCAAT located 31 +/- 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. Calculation of the divergence times of individual beta-like globin gene pairs provides the first description of the evolutionary relationships within a gene family based entirely on direct nucleotide sequence comparisons. In addition, the evolutionary relationship of the embryonic epsilon-globin gene to the other human beta-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 beta-like globin genes during evolution.

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Year:  1980        PMID: 6985477     DOI: 10.1016/0092-8674(80)90429-8

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  524 in total

1.  Heteroplasmy in the mtDNA control region of sturgeon (Acipenser, Huso and Scaphirhynchus).

Authors:  A Ludwig; B May; L Debus; I Jenneckens
Journal:  Genetics       Date:  2000-12       Impact factor: 4.562

2.  Instability of repetitive DNA sequences: the role of replication in multiple mechanisms.

Authors:  M Bzymek; S T Lovett
Journal:  Proc Natl Acad Sci U S A       Date:  2001-07-17       Impact factor: 11.205

3.  MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences.

Authors:  Scott Schwartz; Laura Elnitski; Mei Li; Matt Weirauch; Cathy Riemer; Arian Smit; Eric D Green; Ross C Hardison; Webb Miller
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

4.  A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P Narcisi; P N Ward; A C Nicholls; A De Paepe; F M Pope
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

5.  Expression of mouse Tla region class I genes in tissues enriched for gamma delta cells.

Authors:  P Eghtesady; K A Brorson; H Cheroutre; R E Tigelaar; L Hood; M Kronenberg
Journal:  Immunogenetics       Date:  1992       Impact factor: 2.846

6.  Specific expression of an extensin-like gene in the style of Nicotiana alata.

Authors:  C G Chen; E C Cornish; A E Clarke
Journal:  Plant Cell       Date:  1992-09       Impact factor: 11.277

7.  Nucleotide sequence of a B1 hordein gene and the identification of possible upstream regulatory elements in endosperm storage protein genes from barley, wheat and maize.

Authors:  B G Forde; A Heyworth; J Pywell; M Kreis
Journal:  Nucleic Acids Res       Date:  1985-10-25       Impact factor: 16.971

8.  Mapping of alpha- and beta-globin genes on Antarctic fish chromosomes by fluorescence in-situ hybridization.

Authors:  Eva Pisano; Ennio Cocca; Federico Mazzei; Laura Ghigliotti; Guido di Prisco; H William Detrich; Catherine Ozouf-Costaz
Journal:  Chromosome Res       Date:  2003       Impact factor: 5.239

9.  Illegitimate recombination generates a class switch from C mu to C delta in an IgD-secreting plasmacytoma.

Authors:  A C Gilliam; A Shen; J E Richards; F R Blattner; J F Mushinski; P W Tucker
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

10.  Replacement variant histone genes contain intervening sequences.

Authors:  D Brush; J B Dodgson; O R Choi; P W Stevens; J D Engel
Journal:  Mol Cell Biol       Date:  1985-06       Impact factor: 4.272

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