PMID- 8751390 OWN - NLM STAT- MEDLINE DCOM- 19960925 LR - 20180214 IS - 0301-0171 (Print) IS - 0301-0171 (Linking) VI - 73 IP - 4 DP - 1996 TI - Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci. PG - 334-40 AB - During the establishment of a YAC contig for the type 1 neurofibromatosis (NF1) region on human chromosome 17q11.2, several YAC clones were isolated which originated from a different chromosome but which retained strong homology to NF1 coding regions (Marchuk et al., 1992). Fluorescence in situ hybridization (FISH) using these clones has identified NF1-homologous loci on several human chromosomes, including 2, 14, 15, 21, and 22. PCR amplification using primers originally designed to amplify NF1 exons has confirmed these chromosome localizations and, in addition, has revealed NF1-homologous sequences on chromosomes 12 and 20. Sequence analysis of the amplified products has demonstrated that (1) most of these loci have > 90% identity with NF1 sequences; (2) most of these loci represent nonprocessed pseudogenes; and (3) for the chromosome 12 locus, the two described regions of homology with NF1 have open reading frames. Finally, we have identified two novel alpha-satellite DNA repeat units in proximity to NF1-homologous sequences on chromosome 14. Their association suggests a mechanism for dispersion of the NF1-homologous loci based on alpha-satellite-mediated exchange between nonhomologous chromosomes. FAU - Cummings, L M AU - Cummings LM AD - Laboratory of Cancer Genetics, National Center for Human Genome Research Bethesda, MD, USA. FAU - Trent, J M AU - Trent JM FAU - Marchuk, D A AU - Marchuk DA LA - eng SI - GENBANK/U31754 SI - GENBANK/U31755 PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Switzerland TA - Cytogenet Cell Genet JT - Cytogenetics and cell genetics JID - 0367735 RN - 0 (DNA, Recombinant) RN - 0 (DNA, Satellite) SB - IM MH - Base Sequence MH - Chromosomes, Artificial, Yeast/genetics MH - Chromosomes, Human/*genetics MH - DNA, Recombinant/genetics MH - DNA, Satellite/genetics MH - *Genes, Neurofibromatosis 1 MH - Humans MH - Molecular Sequence Data MH - Polymerase Chain Reaction MH - Pseudogenes MH - Sequence Alignment MH - *Sequence Homology, Nucleic Acid EDAT- 1996/01/01 00:00 MHDA- 1996/01/01 00:01 CRDT- 1996/01/01 00:00 PHST- 1996/01/01 00:00 [pubmed] PHST- 1996/01/01 00:01 [medline] PHST- 1996/01/01 00:00 [entrez] AID - 10.1159/000134370 [doi] PST - ppublish SO - Cytogenet Cell Genet. 1996;73(4):334-40. doi: 10.1159/000134370.