Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22.
Numerous NF1 pseudogenes have been identified in the human genome. Those in 2q21, 14q11, and 22q11 form a subset with a similar genomic organization and a high sequence homology. We have studied, by polymerase chain reaction and fluorescence in situ hybridization, the extent of homology of the regions surrounding these NF1 pseudogenes. Our analyses have demonstrated that a fragment of at least 640 kb is homologous between the three regions. Based on previous studies and these new findings, we propose a model for the spreading of the NF1 pseudogene-containing regions. A fragment of approximately 640 kb was first duplicated in chromosome region 2q21 and transposed to 14q11. Subsequently, this fragment was duplicated in 14q11 and transposed to 22q11. A part of the 640-kb fragment in 14q11, with a length of about 430 kb, was further duplicated to a variable extent in 14q11. In addition, we have identified sequences that may facilitate the duplication and transposition of the 640-kb and 430-kb fragments.
Luijten
M
M
Department of Human Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.
Redeker
S
S
Minoshima
S
S
Shimizu
N
N
Westerveld
A
A
Hulsebos
T J
TJ
D000818:Animals; D001483:Base Sequence; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D020440:Gene Duplication; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D009456:Neurofibromatosis 1 / Q000235:genetics; D016133:Polymerase Chain Reaction; D011544:Pseudogenes; D014178:Translocation, Genetic
D017931:DNA Primers