Preferential retention of paternal alleles in human retinoblastoma: evidence for genomic imprinting.
The origins of the initial mutations in sporadic retinoblastoma were explored using polymorphic markers from chromosome 13q. The paternal chromosome was maintained in 3 of 3 informative bilateral tumors which had undergone reduction to homozygosity for regions of this chromosome. The paternal chromosome was maintained in 7 of 8 informative unilateral tumors which likewise demonstrated a reduction of homozygosity. These data are in contrast to previously published studies of chromosome retention in unilateral retinoblastoma [Dryja, T. P., Mukai, S., Petersen, R., Rapaport, J. M., Walton, D., and Yandel, D. W. Nature (Lond.), 339: 556-558, 1989; Zhu, Z., Dunn, J. M., Phillips, R. A., Goddard, A. D., Paton, K. E., Becker, A., and Gallie, B. L. Nature (Lond.), 340: 312-313, 1989] and provide the first evidence that genomic imprinting may play a role in this disease.
Leach
R J
RJ
Kenneth Norris Jr. Comprehensive Cancer Center, University of Southern California, Los Angeles 90033.
Magewu
A N
AN
Buckley
J D
JD
Benedict
W F
WF
Rother
C
C
Murphree
A L
AL
Griegel
S
S
Rajewsky
M F
MF
Jones
P A
PA
D000483:Alleles; D015139:Blotting, Southern; D002882:Chromosomes, Human, Pair 13; D006579:Heterozygote; D006801:Humans; D010334:Paternity; D012150:Polymorphism, Restriction Fragment Length; D012175:Retinoblastoma / Q000235:genetics*