In:
Cytogenetic and Genome Research, S. Karger AG, Vol. 88, No. 3-4 ( 2000), p. 316-321
Abstract:
The human β-tubulin supergene family consists of several isotypes with many associated pseudogenes. Here we report the identification of yet another β-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 β2-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 β-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.
Type of Medium:
Online Resource
ISSN:
1424-8581
,
1424-859X
Language:
English
Publisher:
S. Karger AG
Publication Date:
2000
detail.hit.zdb_id:
2061918-2
SSG:
12
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