2006
DOI: 10.1086/507047
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Abstract: We report a mutation of UBE2A/HR6A, which encodes a ubiquitin-conjugating enzyme (E2), a member of the ubiquitin proteasome pathway, as the cause of a novel X-linked mental retardation (XLMR) syndrome that affects three males in a two-generation family. A single-nucleotide substitution, c.382C-->T in UBE2A, led to a premature UAG stop codon (Q128X). As a consequence, the predicted polypeptide lacks the 25 C-terminal amino acid residues. The importance of this terminal sequence for UBE2 function is inferred by … Show more

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Cited by 91 publications
(104 citation statements)
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“…Interestingly, he showed defects of an additional nine transcripts, including one microRNA and four predicted transcripts, around UBE2A (Figure 1f), suggesting genes other than UBE2A within the region to be responsible for some of the abnormalities, such as the congenital heart diseases, esotropia and proximal placement of the thumb, which were not described in the cases reported by Nascimento et al, 5 although none of these nine transcripts has been described as a disease-associated gene. Further collection of cases with similar characteristics and screening of deletion/mutations of UBE2A in syndromic as well as idiopathic XLMRaffected males, especially those mapped to areas encompassing UBE2A, will be needed to determine the significance and frequency of alterations of this gene as a causative gene for XLMR.…”
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confidence: 80%
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“…Interestingly, he showed defects of an additional nine transcripts, including one microRNA and four predicted transcripts, around UBE2A (Figure 1f), suggesting genes other than UBE2A within the region to be responsible for some of the abnormalities, such as the congenital heart diseases, esotropia and proximal placement of the thumb, which were not described in the cases reported by Nascimento et al, 5 although none of these nine transcripts has been described as a disease-associated gene. Further collection of cases with similar characteristics and screening of deletion/mutations of UBE2A in syndromic as well as idiopathic XLMRaffected males, especially those mapped to areas encompassing UBE2A, will be needed to determine the significance and frequency of alterations of this gene as a causative gene for XLMR.…”
mentioning
confidence: 80%
“…4 Recently, UBE2A/HR6A, one of the two human orthologs of Saccharomyces cerevisiae RAD6/UBC2 encoding E2 conjugase, was identified as causative of a novel XLMR syndrome through a nonsense mutation. 5 In the course of a program to screen possible patients with XLMR for copy-number aberrations by array-comparative genomic hybridization using a bacterial artificial chromosome (BAC)-based Xtilling array (MCG X-tilling array), 6 we detected a novel 0.4 Mb deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation. Although additional nine transcripts around UBE2A were defective, phenotypic similarity between our patient and three males with a premature stop codon of this gene in a two-generation family 5 indicates that a functional defect of UBE2A is responsible for a syndromic mental retardation.…”
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confidence: 99%
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“…This is also a rare example of a mutated E2 enzyme causing an inherited human disorder, like UBE2A. 20 The p.Gln2Glu substitution is probably hypomorphic, as indicated by the fact that a siUBE2T knockdown made AP65P-hTERT cells more sensitive to MMC and completely eliminated the trace FANCD2 monoubiquitination that could still be observed in the siLuc control knockdown cells ( Figures 3B and 3C). Finally, it is interesting to note a recent report suggesting that UBE2T functions with an unknown E3 in nucleotide excision repair.…”
mentioning
confidence: 96%
“…Este desvio de inativação pode ocorrer também em portadoras de rearranjos submicroscópicos no cromossomo X, ou ainda em portadoras de mutações de ponto com efeito patogênico (Augenstein, 2009;Froyen, 2007;Nascimento, 2006).…”
Section: Desvio De Inativação Do Cromossomo Xunclassified