TY - JOUR
T1 - High-frequency genetic reversion mediated by a DNA duplication
T2 - The mouse pink-eyed unstable mutation
AU - Gondo, Yoichi
AU - Gardner, John M.
AU - Nakatsu, Yoshimichi
AU - Durham-Pierre, Donna
AU - Deveau, Susan A.
AU - Kuper, Cynthia
AU - Brilliant, Murray H.
PY - 1993/1/1
Y1 - 1993/1/1
N2 - The mouse pink-eyed unstable (pun) mutation, affecting coat color, exhibits one of the highest reported reversion frequencies of any mammalian mutation and is associated with a duplication of genomic DNA at the p locus. In this study, genomic clones containing the boundaries of the pun duplication were isolated and characterized. The structure of these sequences and their wild-type and revertant counterparts were analyzed by restriction mapping, PCR product analysis, DNA sequence analysis, and pulsed-field gel electrophoresis. DNA from pun was distinguished from wild-type and revertant DNA by a head-to-tail tandem duplication of ≈70 kilobases. No differences were detected between revertant and wild-type DNAs. Thus, the reversion in phenotype of pun mice is coupled with the loss of one copy of an ≈70-kilobase duplicated segment. Testable models are presented to account for pun reversion.
AB - The mouse pink-eyed unstable (pun) mutation, affecting coat color, exhibits one of the highest reported reversion frequencies of any mammalian mutation and is associated with a duplication of genomic DNA at the p locus. In this study, genomic clones containing the boundaries of the pun duplication were isolated and characterized. The structure of these sequences and their wild-type and revertant counterparts were analyzed by restriction mapping, PCR product analysis, DNA sequence analysis, and pulsed-field gel electrophoresis. DNA from pun was distinguished from wild-type and revertant DNA by a head-to-tail tandem duplication of ≈70 kilobases. No differences were detected between revertant and wild-type DNAs. Thus, the reversion in phenotype of pun mice is coupled with the loss of one copy of an ≈70-kilobase duplicated segment. Testable models are presented to account for pun reversion.
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U2 - 10.1073/pnas.90.1.297
DO - 10.1073/pnas.90.1.297
M3 - Article
C2 - 8419934
AN - SCOPUS:0027446351
SN - 0027-8424
VL - 90
SP - 297
EP - 301
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 1
ER -