Characterization of the telomere complex, TERF1 and TERF2 genes in muntjac species with fusion karyotypes

Exp Cell Res. 2005 May 15;306(1):64-74. doi: 10.1016/j.yexcr.2005.02.001.

Abstract

The telomere binding proteins TRF1 and TRF2 maintain and protect chromosome ends and confer karyotypic stability. Chromosome evolution in the genus Muntiacus is characterized by numerous tandem (end-to-end) fusions. To study TRF1 and TRF2 telomere binding proteins in Muntiacus species, we isolated and characterized the TERF1 and -2 genes from Indian muntjac (Muntiacus muntjak vaginalis; 2n = 6 female) and from Chinese muntjac (Muntiacus reveesi; 2n = 46). Expression analysis revealed that both genes are ubiquitously expressed and sequence analysis identified several transcript variants of both TERF genes. Control experiments disclosed a novel testis-specific splice variant of TERF1 in human testes. Amino acid sequence comparisons demonstrate that Muntiacus TRF1 and in particular TRF2 are highly conserved between muntjac and human. In vivo TRF2-GFP and immuno-staining studies in muntjac cell lines revealed telomeric TRF2 localization, while deletion of the DNA binding domain abrogated this localization, suggesting muntjac TRF2 represents a functional telomere protein. Finally, expression analysis of a set of telomere-related genes revealed their presence in muntjac fibroblasts and testis tissue, which suggests the presence of a conserved telomere complex in muntjacs. However, a deviation from the common theme was noted for the TERT gene, encoding the catalytic subunit of telomerase; TERT expression could not be detected in Indian or Chinese muntjac cDNA or genomic DNA using a series of conserved primers, while TRAP assay revealed functional telomerase in Chinese muntjac testis tissues. This suggests muntjacs may harbor a diverged telomerase sequence.

MeSH terms

  • Alternative Splicing / genetics
  • Amino Acid Sequence
  • Animals
  • Chromosomes, Mammalian / genetics
  • Cloning, Molecular
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Gene Expression / genetics
  • Humans
  • Karyotyping
  • Mice
  • Molecular Sequence Data
  • Muntjacs / genetics*
  • Muntjacs / metabolism
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Protein Isoforms / genetics
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Telomerase / genetics
  • Telomere / metabolism*
  • Telomeric Repeat Binding Protein 1 / genetics*
  • Telomeric Repeat Binding Protein 1 / metabolism
  • Telomeric Repeat Binding Protein 2 / genetics*
  • Telomeric Repeat Binding Protein 2 / metabolism

Substances

  • DNA, Complementary
  • Nuclear Proteins
  • Protein Isoforms
  • Telomeric Repeat Binding Protein 1
  • Telomeric Repeat Binding Protein 2
  • Telomerase

Associated data

  • GENBANK/AY606018
  • GENBANK/AY606019
  • GENBANK/AY606020
  • GENBANK/AY606021
  • GENBANK/AY606022
  • GENBANK/AY606023
  • GENBANK/AY606024
  • GENBANK/AY606025
  • GENBANK/AY606026
  • GENBANK/AY606027
  • GENBANK/AY606028
  • GENBANK/AY606029
  • GENBANK/AY760063
  • GENBANK/AY760064
  • GENBANK/AY760065
  • GENBANK/AY760066
  • GENBANK/AY760067
  • GENBANK/AY760068
  • GENBANK/AY760069
  • GENBANK/AY760070
  • GENBANK/AY760071
  • GENBANK/AY760072
  • GENBANK/AY760073
  • GENBANK/AY760074
  • GENBANK/AY760075
  • GENBANK/AY760076