PMID- 10475385
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20191103
IS  - 1052-9551 (Print)
IS  - 1052-9551 (Linking)
VI  - 8
IP  - 2
DP  - 1999 Jun
TI  - Processed pseudogene from the von Hippel-Lindau disease gene is located on human 
      chromosome 1.
PG  - 101-6
AB  - The von Hippel-Lindau (VHL) disease gene is a tumor suppressor located at
      3p25-26. While amplifying intron 1 of this gene, a smaller-than-expected product 
      was found. This fragment was sequenced and was approximately 78% similar in
      sequence to the VHL gene and completely lacked sequence from the intron. No stop 
      codons were found in the sequenced region. Using this DNA fragment as a probe for
      Northern blot hybridization analysis, no evidence was found for expression of a
      unique RNA. Because of the lack of intron 1 sequence and the likely lack of
      expression, the new sequence is most probably a part of a VHL processed
      pseudogene. The putative pseudogene was mapped to human chromosome band 1q12
      using the polymerase chain reaction with template DNA from human/rodent somatic
      cell hybrids, a radiation hybrid panel, and a set of primers that were chosen to 
      be maximally divergent from the genuine VHL gene. The human/rodent somatic cell
      hybrid DNAs were then used on Southern blots to determine which human bands are
      from the pseudogene and which are from the functional gene. This knowledge is
      valuable in interpreting Southern blot evidence of VHL gene abnormalities.
FAU - Bradley, J F
AU  - Bradley JF
AD  - Molecular Genetics Laboratory, The Children's Mercy Hospital, University of
      Missouri Kansas City School of Medicine, 64108, USA.
FAU - Rothberg, P G
AU  - Rothberg PG
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Diagn Mol Pathol
JT  - Diagnostic molecular pathology : the American journal of surgical pathology, part
      B
JID - 9204924
RN  - 0 (Proteins)
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
RN  - EC 2.3.2.27 (Von Hippel-Lindau Tumor Suppressor Protein)
RN  - EC 6.- (Ligases)
RN  - EC 6.3.2.- (VHL protein, human)
SB  - IM
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Blotting, Southern
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Humans
MH  - *Ligases
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - Proteins/*genetics
MH  - *Pseudogenes
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Nucleic Acid
MH  - *Tumor Suppressor Proteins
MH  - *Ubiquitin-Protein Ligases
MH  - Von Hippel-Lindau Tumor Suppressor Protein
EDAT- 1999/09/04 00:00
MHDA- 1999/09/04 00:01
CRDT- 1999/09/04 00:00
PHST- 1999/09/04 00:00 [pubmed]
PHST- 1999/09/04 00:01 [medline]
PHST- 1999/09/04 00:00 [entrez]
AID - 10.1097/00019606-199906000-00007 [doi]
PST - ppublish
SO  - Diagn Mol Pathol. 1999 Jun;8(2):101-6. doi: 10.1097/00019606-199906000-00007.