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          Institute: MPI für Neurobiologie     Collection: Neuroimmunology     Display Documents



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ID: 127323.0, MPI für Neurobiologie / Neuroimmunology
Complete physical map and gene content of the human NFI tumor suppressor region in human and mouse
Authors:Jenne, Dieter E.; Tinschert, S.; Dorschner, M. O.; Hameister, H.; Stephens, K.; Kehrer-Sawatzki, H.
Language:English
Date of Publication (YYYY-MM-DD):2003-06
Title of Journal:Genes Chromosomes & Cancer
Journal Abbrev.:Gene Chromosomes Cancer
Volume:37
Issue / Number:2
Start Page:111
End Page:120
Review Status:Peer-review
Audience:Not Specified
Abstract / Description:Duplicon-mediated microdeletions around the NF1 gene are frequently associated with a severe form of neurofibromatosis type I in a subgroup of patients who show an earlier onset of cutaneous neurofibromas, dysmorphic facial features, and lower IQ values. To clarify the discrepancies between published maps of the NF1 tumor-suppressor gene region as well as the length of gaps in these assemblies and to validate the recently described tandem duplication of the human NF1 locus, we assembled a contiguous high-density map of BAC and PAC clones from different genomic libraries. Although two WI-12393-derived low-copy fragments are known to occur at the proximal and distal boundaries of the 1.5-Mb segment that is usually deleted in NF1 microdeletion patients, we identified an additional WI-12393-related segment between the MGC13061 and the NF1 gene, which appears to trigger interstitial deletions of smaller size as observed in two patients. Moreover, we completed the genomic organization and cDNA structure of all functional genes, CYTOR4, FLJ12735, FLJ22729, CENTA2, MGC13061, NF1, OMG, EV12B, EV12A, KIAA1821, MGC11316, HCA66, KIAA0160, and WI-12393, from this region. A comparison of the human map to the orthologous region on mouse chromosome I I revealed significant differences in the number and arrangement of genes, indicating that many chromosomal breaks with partial duplications, inversions, and deletions occurred predominantly in the primate lineage. (C) 2003 Wiley-Liss, Inc.
Comment of the Author/Creator:Date: 2003, JUN
External Publication Status:published
Document Type:Article
Affiliations:MPI für Neurobiologie/Neuroimmunology (Wekerle)
External Affiliations:Univ Ulm, Dept Human Genet, D-89081 Ulm, Germany.; Max Planck Inst Neurobiol, Dept Neuroimmunol, Martinsried, Germany.; Humboldt Univ, Inst Med Genet, Charite, Berlin, Germany.; Univ Washington, Dept Med, Seattle, WA USA.; Univ Washington, Dept Lab Med, Seattle, WA USA.
Identifiers:ISI:000182648800001 [ID No:1]
ISSN:1045-2257 [ID No:2]
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