Human Molecular Genetics, Vol 5, 1289-1298, Copyright © 1996 by Oxford University Press
CI Szabo, LA Wagner, LV Francisco, JC Roach, R Argonza, MC King and EA Ostrander
Five to ten percent of breast cancer in the western world may be attributed
to the inheritance of highly penetrant mutations in the breast and ovarian
cancer susceptibility gene, BRCA1. The biological function of BRCA1 and
factors affecting expressivity, such as gene- environment and gene-gene
interactions, may be more effectively studied in appropriate animal models.
We report the cloning and sequencing of the canine and murine BRCA1 genes
and contrast the sequences with human BRCA1. The amino terminal 120
residues of the gene are > 80% identical among the three species. The
C-terminus is also highly conserved, containing an 80 amino acid stretch
that is over 80% identical. Motifs of likely functional significance are
maintained, including the amino terminal RING finger motif (amino acids
24-64) and the granin consensus sequence (1214-1223). The distribution of
missense mutations and neutral polymorphisms identified in BRCA1-linked
breast cancer suggests that disease associated missense mutations occur at
highly conserved residues whereas polymorphisms are in regions of lower
conservation. Among eighteen missense mutations with unknown consequences,
seven occur in amino acids that are identical across species. Four of these
seven (E1219D, A1708E, P1749R and M1775R) are also within conserved
domains. Taken together, these data predict regions of the gene which may
be critical for normal function.
ARTICLES
Human, canine and murine BRCA1 genes: sequence comparison among species
Division of Medical Genetics, University of Washington, Seattle 98195, USA.
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