PMID- 10395805
OWN - NLM
STAT- MEDLINE
DCOM- 19990830
LR  - 20161124
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 59
IP  - 1
DP  - 1999 Jul 1
TI  - Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3
      medulloblastoma tumor suppressor locus.
PG  - 97-101
AB  - Allelic loss of 17p13.3 is observed in approximately 40% of medulloblastomas,
      suggesting the presence of a tumor suppressor gene in this region. Deletion
      mapping has defined a region of common loss flanking the telomeric marker D17S34,
      and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus
      in one such tumor. Using cDNA selection, we have identified a transcript spanning
      this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77%
      overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al
      (originally termed Noc2), a gene putatively involved in regulated endocrine
      exocytosis through its interactions with the cytoskeleton. We determined the
      exon-intron boundaries of RPH3AL and screened the coding region for mutations by 
      direct sequencing in DNA extracted from 33 tumor samples with allelic loss of
      17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9
      ovarian cancer specimens. No mutations were identified. Thus, despite its
      location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a
      gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer.
CI  - Copyright 1999 Academic Press.
FAU - Smith, J S
AU  - Smith JS
AD  - Division of Laboratory Genetics, Mayo Clinic and Foundation, Rochester, Minnesota
      55905, USA.
FAU - Tachibana, I
AU  - Tachibana I
FAU - Allen, C
AU  - Allen C
FAU - Chiappa, S A
AU  - Chiappa SA
FAU - Lee, H K
AU  - Lee HK
FAU - McIver, B
AU  - McIver B
FAU - Jenkins, R B
AU  - Jenkins RB
FAU - Raffel, C
AU  - Raffel C
LA  - eng
SI  - GENBANK/AF129812
PT  - Journal Article
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (RPH3AL protein, human)
RN  - 0 (Vesicular Transport Proteins)
RN  - 0 (rabphilin-3A)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
RN  - EC 3.6.5.2 (rab GTP-Binding Proteins)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Cerebellar Neoplasms/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Cloning, Molecular
MH  - DNA Mutational Analysis
MH  - DNA, Neoplasm/chemistry/genetics
MH  - Exons
MH  - GTP-Binding Proteins/*genetics
MH  - *Genes, Tumor Suppressor
MH  - Humans
MH  - Introns
MH  - Loss of Heterozygosity
MH  - Medulloblastoma/*genetics
MH  - Molecular Sequence Data
MH  - Nerve Tissue Proteins/*genetics
MH  - Rats
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Vesicular Transport Proteins
MH  - *rab GTP-Binding Proteins
EDAT- 1999/07/09 00:00
MHDA- 1999/07/09 00:01
CRDT- 1999/07/09 00:00
PHST- 1999/07/09 00:00 [pubmed]
PHST- 1999/07/09 00:01 [medline]
PHST- 1999/07/09 00:00 [entrez]
AID - 10.1006/geno.1999.5864 [doi]
AID - S0888-7543(99)95864-0 [pii]
PST - ppublish
SO  - Genomics. 1999 Jul 1;59(1):97-101. doi: 10.1006/geno.1999.5864.