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

Geel, Michel van; Deutekom, J.C.T. van; Staalduinen, Jente van; Lemmers, Richard J.L.F.; Dickson, M.C.; Hofker, M.H.; Padberg, G.W.A.M.; Hewitt, Jane; Jong, Pieter J. de; Frants, Rune R.

doi:10.1159/000015518

Cited by 30 publications

(20 citation statements)

References 24 publications

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“…The copy at 4q35, however, appears to be conserved throughout evolution, as homologues have been identified in mouse [42], Fugu rubripes and Caenorhabditis elegans [43]. A putative gene has been also identified that maps 80 kb centromeric to D4Z4 on chromosome 4q35 [44]. This gene, TUBB4Q, is part of the b-tubulin supergene family and encodes a putative protein of 434 amino acids that shares 87 % homology with b2-tubulin.…”

Section: The Fshd Region On Chromosome 4q35 Contains Genes and Pseudomentioning

confidence: 99%

Molecular basis of facioscapulohumeral muscular dystrophy

Tupler

Gabellini

2004

Cellular and Molecular Life Sciences (CMLS)

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Facioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an autosomal dominant disease with an insidious onset and progression. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kb repeats, termed D4Z4, located on chromosome 4q35. In FSHD patients a deletion of the integral number of D4Z4 repeats generates a fragment that is usually smaller than 35 kb (fewer than 11 repeats), whereas in normal controls the size usually ranges from 50 to 300 kb (between 11 and 150 units). D4Z4 is a repetitive element with heterochromatic features. Recently, 4q35 genes located upstream of D4Z4 have been found to be inappropriately overexpressed specifically in FSHD muscle. An element within D4Z4 has been shown to behave as a silencer that provides a binding site for a transcriptional repressing complex. These results suggest a model in which deletion of D4Z4 leads to the inappropriate transcriptional derepression of 4q35 genes, resulting in disease.

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Section: The Fshd Region On Chromosome 4q35 Contains Genes and Pseudomentioning

confidence: 99%

Molecular basis of facioscapulohumeral muscular dystrophy

Tupler

Gabellini

2004

Cellular and Molecular Life Sciences (CMLS)

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“…The high allelic sequence variability of TUBB4Q and the lack of expression of this gene suggest it may be a pseudogene. 28 In the past, another candidate gene for FSHD was identified at 120 kb proximal to D4Z4: FRG1 (FSHD Region Gene 1). This gene is ubiquitously transcribed and encodes a protein that seems to be involved in RNA processing.…”

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confidence: 99%

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

Rijkers

Deidda²,

Koningsbruggen³

et al. 2004

Journal of Medical Genetics

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“…The TUBB4Q gene is a putative novel member of the betatubulin gene family, which was identified following exon trapping and subsequent computer analysis to predict a full length cDNA. 25 van Geel et al 25 proposed that TUBB4Q is a pseudogene, as they found no evidence that the gene was transcriptionally active following RT-PCR from a wide range of tissues. No EST sequences for TUBB4Q were identified, supporting the suggestion that this represents a pseudogene.…”

Section: Discussionmentioning

confidence: 99%

A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35

et al. 2002

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Bipolar affective disorder is one of the most common mental illnesses with a population prevalence of approximately 1%. The disorder is genetically complex, with an increasing number of loci being implicated through genetic linkage studies. However, the specific genetic variations and molecules involved in bipolar susceptibility and pathogenesis are yet to be identified. Genetic linkage analysis has identified a bipolar disorder susceptibility locus on chromosome 4q35, and the interval harbouring this susceptibility gene has been narrowed to a size that is amenable to positional cloning. We have used the resources of the Human Genome Project (HGP) and Celera Genomics to identify overlapping sequenced BAC clones and sequence contigs that represent the region implicated by linkage analysis. A combination of bioinformatic tools and laboratory techniques have been applied to annotate this DNA sequence data and establish a comprehensive transcript map that spans approximately 5.5 Mb. This map encompasses the chromosome 4q35 bipolar susceptibility locus, which localises to a 'most probable' candidate interval of approximately 2.3 Mb, within a more conservative candidate interval of approximately 5 Mb. Localised within this map are 11 characterised genes and eight novel genes of unknown function, which together provide a collection of candidate transcripts that may be investigated for association with bipolar disorder. Overall, this region was shown to be very gene-poor, with a high incidence of pseudogenes, and redundant and novel repetitive elements. Our analysis of the interval has demonstrated a significant difference in the extent to which the current HGP and Celera sequence data sets represent this region.

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

Cited by 30 publications

References 24 publications

Molecular basis of facioscapulohumeral muscular dystrophy

Molecular basis of facioscapulohumeral muscular dystrophy

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35

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