Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1)

Hum Mol Genet. 1994 Mar;3(3):465-70. doi: 10.1093/hmg/3.3.465.

Abstract

To identify a gene responsible for multiple endocrine neoplasia type 1 (MEN1), we attempted to isolate potentially transcribable fragments from cosmid clones derived from a region on chromosome 11q13 where genetic linkage studies and analyses of loss of heterozygosity in MEN1-associated tumors have localized the MEN1 gene. By an exon-amplification method, we recovered three exon-like sequences from one of these clones, cCI11-367, and using these sequences as probes we were able to isolate new clones from cerebrum, cerebellum, and fetal-liver cDNA libraries. Sequence analysis of these cDNA clones revealed that the transcribed gene, designated ZFM1, encodes a novel 623-amino-acid protein containing domains with interesting structural properties including a nuclear transport domain, a metal binding motif, and glutamine- and proline-rich regions. Analysis by the reverse-transcriptase polymerase chain reaction (RT-PCR) indicated that this gene is expressed in various tissues including endocrine organs such as thyroid gland, pancreas, adrenal gland, and ovary. These data suggest that ZFM1 might be a candidate for mutations that cause MEN1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Carrier Proteins / genetics*
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Cloning, Molecular
  • DNA, Complementary
  • DNA-Binding Proteins*
  • Exons
  • Genetic Linkage*
  • Humans
  • Molecular Sequence Data
  • Multiple Endocrine Neoplasia / genetics*
  • Nuclear Proteins / genetics*
  • Polymerase Chain Reaction
  • RNA Splicing Factors
  • Sequence Homology, Amino Acid
  • Transcription Factors*

Substances

  • Carrier Proteins
  • DNA, Complementary
  • DNA-Binding Proteins
  • Nuclear Proteins
  • RNA Splicing Factors
  • SF1 protein, human
  • Transcription Factors

Associated data

  • GENBANK/D26120
  • GENBANK/D26121
  • GENBANK/D26122