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Corpus Systématique Animale

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Confirmation of assignment of the human ?1-crystallin gene ( CRYA1 ) to chromosome 21 with regional localization to q22.3

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  • James W. Hawkins 1
  • Margaret L. Van Keuren 2
  • Joram Piatigorsky 1
  • Martha Liao Law 2,3
  • David Patterson 2,4,5
  • Fa-Ten Kao 2,5
  • 1) Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, 20892, Bethesda, MD, USA
  • 2) Eleanor Roosevelt Institute for Cancer Research, 1899 Gaylord Street, 80206, Denver, CO, USA
  • 3) Department of Pediatrics, University of Colorado Health Sciences Center, 80262, Denver, CO, USA
  • 4) Department of Medicine, University of Colorado Health Sciences Center, 80262, Denver, CO, USA
  • 5) Department of Biochemistry, Biophysics and Genetics, University of Colorado Health Sciences Center, 80262, Denver, CO, USA

The crystallins are highly conserved structural proteins universally found in the eye lens of all vertebrate species. In mammals, three immunologically distinct classes are present, ?-, ?-, and ?-crystallins, and each class represents a multigene family. The ?-crystallin gene family consists of ?1-crystallin (CRYA1) and ?2-crystallin (CRYA2) genes (previously designated ?A-and ?B-crystallin, respectively), which show extensive sequence homology. We constructed a synthetic oligonucleotide probe of 25 bases corresponding to a specific region of the human ?1-crystallin gene sequence. This 25-mer probe bears little sequence homology to human ?2-crystallin gene and does not cross-hybridize to ?2-crystallin sequences in Southern blot analysis. Using this unique synthetic probe, we have demonstrated the identity of the ?1-crystallin gene in human genomic DNA. In addition, we have also confirmed its chromosomal location on human chromosome 21. Finally, we have regionally localized the gene to q22.3 by using both Southern blot analysis of a panel of cell hybrids containing different parts of human chromosome 21, and in situ hybridization to metaphase chromosomes. The use of synthetic oligonucleotide probes specific for individual genes should be useful in identifying and mapping members of multigene families.

Catégories Science-Metrix
  • 1 - health sciences
  • 2 - biomedical research
  • 3 - genetics & heredity
Catégories INIST
  • 1 - sciences appliquees, technologies et medecines
  • 2 - sciences biologiques et medicales
  • 3 - sciences biologiques fondamentales et appliquees. psychologie
Catégories Scopus
  • 1 - Health Sciences ; 2 - Medicine ; 3 - Genetics(clinical)
  • 1 - Life Sciences ; 2 - Biochemistry, Genetics and Molecular Biology ; 3 - Genetics
Catégories WoS
  • 1 - science ; 2 - genetics & heredity
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Human Genetics

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  • Mammiferes
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