PMID- 10036180
OWN - NLM
STAT- MEDLINE
DCOM- 19990505
LR  - 20111117
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 56
IP  - 1
DP  - 1999 Feb 15
TI  - Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis 
      syndrome candidate region: identification of 53 transcriptional units and new
      candidate genes.
PG  - 1-11
AB  - The chromosomal band 17p11.2 is associated with a number of neurological
      disorders and malignant diseases. This region is also characterized by the
      presence of complex repeat elements that are probably responsible for the
      frequent occurrence of interstitial deletions, duplications, and isochromosome
      formation. In the course of the molecular analysis of this interval, an
      integrated map with YACs, PACs, and cosmids covering approximately 6 Mb was
      established. Focusing on the 1.4-Mb interval containing the Smith-Magenis
      syndrome critical region and the breakpoint region for medulloblastomas, we
      constructed a detailed transcript map between the marker PS2 and the proximal
      CMT1A repeat. FISH analysis of the PACs allowed determination of the position of 
      the transcripts with respect to the SMS critical region and the presumptive
      chromosomal breakpoint in medulloblastomas. One PAC (G21100) provided evidence
      for the presence of a novel complex repeat unit, indicating that there are at
      least three independent repeat elements within 2 Mb. Five genes were mapped to
      clone G21100 and are likely to form part of this novel complex sequence repeat.
      In summary, 53 new transcripts were isolated by using cDNA selection and exon
      trapping. This included 8 known but previously unmapped genes and 45 novel
      transcripts. The expression profile of 21 transcripts was determined by RT-PCR.
      Based on their homologies to known genes or proteins, some of the novel genes are
      considered candidate genes either for malignant diseases or for the Smith-Magenis
      syndrome.
CI  - Copyright 1999 Academic Press.
FAU - Seranski, P
AU  - Seranski P
AD  - Abt. Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer
      Feld 280, Heidelberg, 69120, Germany.
FAU - Heiss, N S
AU  - Heiss NS
FAU - Dhorne-Pollet, S
AU  - Dhorne-Pollet S
FAU - Radelof, U
AU  - Radelof U
FAU - Korn, B
AU  - Korn B
FAU - Hennig, S
AU  - Hennig S
FAU - Backes, E
AU  - Backes E
FAU - Schmidt, S
AU  - Schmidt S
FAU - Wiemann, S
AU  - Wiemann S
FAU - Schwarz, C E
AU  - Schwarz CE
FAU - Lehrach, H
AU  - Lehrach H
FAU - Poustka, A
AU  - Poustka A
LA  - eng
SI  - GENBANK/AJ009666
SI  - GENBANK/AJ009667
SI  - GENBANK/AJ230778
SI  - GENBANK/AJ230779
SI  - GENBANK/AJ230780
SI  - GENBANK/AJ230781
SI  - GENBANK/AJ230782
SI  - GENBANK/AJ230783
SI  - GENBANK/AJ230784
SI  - GENBANK/AJ230785
SI  - GENBANK/AJ230786
SI  - GENBANK/AJ230787
SI  - GENBANK/AJ230788
SI  - GENBANK/AJ230789
SI  - GENBANK/AJ230790
SI  - GENBANK/AJ230791
SI  - GENBANK/AJ230792
SI  - GENBANK/AJ230793
SI  - GENBANK/AJ230794
SI  - GENBANK/AJ230795
SI  - GENBANK/AJ230796
SI  - GENBANK/AJ230797
SI  - GENBANK/AJ230798
SI  - GENBANK/AJ230799
SI  - GENBANK/AJ230800
SI  - GENBANK/AJ230801
SI  - GENBANK/AJ230802
SI  - GENBANK/AJ230803
SI  - GENBANK/AJ230804
SI  - GENBANK/AJ230806
SI  - etc.
PT  - Journal Article
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (DNA, Complementary)
SB  - IM
MH  - Brain Neoplasms/*genetics
MH  - Chromosome Breakage
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Cloning, Molecular
MH  - DNA, Complementary/genetics
MH  - Exons/genetics
MH  - Gene Expression
MH  - Gene Library
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Medulloblastoma/*genetics
MH  - Molecular Sequence Data
MH  - Physical Chromosome Mapping
MH  - Repetitive Sequences, Nucleic Acid
MH  - Sequence Analysis, DNA
MH  - Syndrome
EDAT- 1999/02/26 00:00
MHDA- 1999/02/26 00:01
CRDT- 1999/02/26 00:00
PHST- 1999/02/26 00:00 [pubmed]
PHST- 1999/02/26 00:01 [medline]
PHST- 1999/02/26 00:00 [entrez]
AID - S0888-7543(98)95647-6 [pii]
AID - 10.1006/geno.1998.5647 [doi]
PST - ppublish
SO  - Genomics. 1999 Feb 15;56(1):1-11. doi: 10.1006/geno.1998.5647.