The primate α-globin gene family: A paradigm of the fluid genome

J. Marks, J. P. Shaw, Carlos Perez-Stable, W. S. Hu, T. M. Ayres, C. Shen, C. K. Shen

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

The α-globins are an extraordinarily useful model for analyzing the dynamic processes that produced the human genome and that still occur within it, most of which could hardly have been imagined 20 years ago. We are approaching problems of genomic turnover from a structural, biophysical, and cellular perspective, in the hopes of deepening our knowledge of the mechanisms involved in these recombinations. Nevertheless, it is always possible, in the highly focused realm of molecular studies, to lose sight of the larger spectacle of phylogeny and evolution. We appreciate that our work interfaces with other disciplines, such as systematics, primatology, and biological anthropology, and that interchange can be mutually illuminating. The θ1 gene was discovered first in the orangutan because the human α-cluster had proven difficult to clone downstream from α1, and all the known globin proteins were accounted for genomically and there seemed no reason to expect anything of interest to exist there. By focusing our attention not only on genomic evolutionary processes, but on their evolutionary products in other closely related species as well, we have been able to frame and test hypotheses about the structure of the human genome, and reciprocally to make inferences about the processes themselves. It is now obvious that the genome is not the stable entity it was once considered to be. On the contrary, it is in a fairly constant state of flux. The 30-kb stretch comprising the human α-globin cluster affords us a window through which we may glimpse the genomic turnover processes operating, model them, and, in the end, gain a deeper understanding of the cryptic factors that govern the genetic evolution of our species.

Original languageEnglish
Pages (from-to)499-508
Number of pages10
JournalCold Spring Harbor Symposia on Quantitative Biology
Volume51
Issue number1
StatePublished - Dec 1 1986
Externally publishedYes

Fingerprint

Globins
Primates
Genes
Genome
Human Genome
Fluids
genome
genomics
Pongo
Anthropology
genes
Molecular Evolution
Phylogeny
anthropology
Genetic Recombination
Pongo pygmaeus
Interchanges
Clone Cells
dynamic models
clones

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Molecular Biology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Biochemistry

Cite this

Marks, J., Shaw, J. P., Perez-Stable, C., Hu, W. S., Ayres, T. M., Shen, C., & Shen, C. K. (1986). The primate α-globin gene family: A paradigm of the fluid genome. Cold Spring Harbor Symposia on Quantitative Biology, 51(1), 499-508.

The primate α-globin gene family : A paradigm of the fluid genome. / Marks, J.; Shaw, J. P.; Perez-Stable, Carlos; Hu, W. S.; Ayres, T. M.; Shen, C.; Shen, C. K.

In: Cold Spring Harbor Symposia on Quantitative Biology, Vol. 51, No. 1, 01.12.1986, p. 499-508.

Research output: Contribution to journalArticle

Marks, J, Shaw, JP, Perez-Stable, C, Hu, WS, Ayres, TM, Shen, C & Shen, CK 1986, 'The primate α-globin gene family: A paradigm of the fluid genome', Cold Spring Harbor Symposia on Quantitative Biology, vol. 51, no. 1, pp. 499-508.
Marks, J. ; Shaw, J. P. ; Perez-Stable, Carlos ; Hu, W. S. ; Ayres, T. M. ; Shen, C. ; Shen, C. K. / The primate α-globin gene family : A paradigm of the fluid genome. In: Cold Spring Harbor Symposia on Quantitative Biology. 1986 ; Vol. 51, No. 1. pp. 499-508.
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