Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35

Cytogenet Cell Genet. 2000;88(3-4):316-21. doi: 10.1159/000015518.

Abstract

The human beta-tubulin supergene family consists of several isotypes with many associated pseudogenes. Here we report the identification of yet another beta-tubulin sequence designated TUBB4Q. This tubulin maps 80 kb proximal to the facioscapulohumeral muscular dystrophy (FSHD1) associated D4Z4 repeats on chromosome 4q35. The genomic structure contains four exons encoding a putative protein of 434 amino acids. The TUBB4Q nucleotide and protein sequence show 87% and 86% homology to beta2-tubulin, respectively. Although the genomic structure shows all functional aspects of a genuine gene, no transcript could be detected. TUBB4Q-related sequences were identified on multiple chromosomes. Since these sequences mutually exhibit a high nucleotide sequence homology, they presumably belong to a novel subfamily of beta-tubulin genes. Although the chromosome 4q35 tubulin-member probably represents a pseudogene, ectopic expression due to a postulated position effect variegation (PEV), makes TUBB4Q an ideal dominant-negative candidate gene for FSHD1.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Chromosomes, Human, Pair 4 / genetics*
  • Cloning, Molecular
  • Exons / genetics
  • Genetic Linkage / genetics
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Multigene Family / genetics*
  • Muscular Dystrophy, Facioscapulohumeral / genetics
  • Physical Chromosome Mapping
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics
  • Protein Structure, Tertiary
  • Pseudogenes / genetics
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Telomere / genetics*
  • Tubulin / chemistry
  • Tubulin / genetics*

Substances

  • RNA, Messenger
  • TUBB7P protein, human
  • Tubulin

Associated data

  • GENBANK/U83110
  • GENBANK/U83668