PMID- 9150722
OWN - NLM
STAT- MEDLINE
DCOM- 19970609
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 99
IP  - 5
DP  - 1997 May
TI  - Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 
      (MEN1).
PG  - 585-9
AB  - The multiple endocrine neoplasia type 1 (MEN1) locus has been previously 
      localised to 11q13 by combined tumour deletion mapping and linkage studies and a 
      3.8-cM region flanked by PYGM and D11S97 has been defined. The zinc finger in the 
      MEN1 locus (ZFM1) gene, which has also been mapped to this region, represents a 
      candidate gene for MEN1. The ZFM1 gene, which consists of 14 exons, encodes a 
      623-amino acid protein and exons 2, 8 and 12 encode the putative nuclear 
      localisation signal, a zinc finger motif, and a proline-rich region, 
      respectively. We have investigated these potentially functional regions for 
      germ-line mutations by single-stranded conformational polymorphism (SSCP) 
      analysis in 64 unrelated MEN1 patients. In addition, we performed DNA sequence 
      analysis of all the 14 exons and 13 of the 26 exon-intron boundaries in four 
      unrelated MEN1 patients. A 6-bp deletion that resulted in the loss of two proline 
      residues at codons 479 and 480 in exon 12 was found in one MEN1 patient. However, 
      this did not co-segregate with MEN1 in the family and represented a rare 
      polymorphism. Analysis by SSCP, DNA sequencing, northern blotting, Southern 
      blotting and pulsed field gel electrophoresis revealed no additional genetic 
      abnormalities of ZFM1 in the other MEN1 patients. Thus, our results indicate that 
      ZFM1 is excluded as a candidate gene for MEN1.
FAU - Lloyd, S E
AU  - Lloyd SE
AD  - MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Royal 
      Postgraduate Medical School, Hammersmith Hospital, London, UK.
FAU - Pang, J T
AU  - Pang JT
FAU - Pearce, S H
AU  - Pearce SH
FAU - Leigh, S E
AU  - Leigh SE
FAU - Thakker, R V
AU  - Thakker RV
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Nuclear Proteins)
RN  - 0 (RNA Splicing Factors)
RN  - 0 (SF1 protein, human)
RN  - 0 (Transcription Factors)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Carrier Proteins/biosynthesis/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - DNA/blood/chemistry
MH  - DNA Primers
MH  - *DNA-Binding Proteins
MH  - Exons
MH  - Gene Deletion
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Humans
MH  - Introns
MH  - Leukocytes
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Nuclear Proteins/biosynthesis/*genetics
MH  - Polymerase Chain Reaction
MH  - RNA Splicing Factors
MH  - *Transcription Factors
MH  - Transcription, Genetic
EDAT- 1997/05/01 00:00
MHDA- 1997/05/01 00:01
CRDT- 1997/05/01 00:00
PHST- 1997/05/01 00:00 [pubmed]
PHST- 1997/05/01 00:01 [medline]
PHST- 1997/05/01 00:00 [entrez]
AID - 10.1007/s004390050410 [doi]
PST - ppublish
SO  - Hum Genet. 1997 May;99(5):585-9. doi: 10.1007/s004390050410.