Transcriptional Modification by a CASK-Interacting Nucleosome Assembly Protein

Wang, Guey-Shin; Hong, Chen-Jei; Yen, Tsen-Yann; Huang, Hsin‐Yi; Ou, Yvonne; Huang, Tzyy-Nan; Jung, Wei-Gang; Kuo, Ting-Yu; Sheng, Morgan; Wang, Ting-Fang; Hsueh, Yi‐Ping

doi:10.1016/j.neuron.2004.07.024

Cited by 32 publications

(92 citation statements)

References 4 publications

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“…These proteins form a transcriptional complex that regulates expression of genes, such as RELN and NR2b (NMDA receptor 2b), which are important for neuronal function and development. 7,9,19,20 Huang and Hsueh 20 recently demonstrated that a point mutation in the Thr724 residue of the rat CASK guanylate kinase domain reduced the interaction between CASK and both Tbr-1 and CINAP proteins. We postulate that the above splice mutations would result in a similar or more pronounced effect.…”

Section: Discussionmentioning

confidence: 99%

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

et al. 2009

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Section: Discussionmentioning

confidence: 99%

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

et al. 2009

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“…TSPX, on the other hand, was initially considered as a TSPY-like gene, termed TSPYlike 2. It has been independently isolated in various systems and has been designated as CDA1, DENTT and CASK-interacting nucleosome assembly protein (Chai et al, 2001;Ozbun et al, 2001;Wang et al, 2004a). Recent studies on the gene organization and encoded proteins showed that its gene structure is closely related to that of TSPY, including conservation of intron-exon junctions and sequences, particularly at SET/NAP domain, but with exceptions at their amino and C termini that encode a proline-rich and acidic domain, respectively (Delbridge et al, 2004;Lau et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

“…TSPY is normally expressed in male early germ cells during embryogenesis, and spermatogonia, spermatocytes and, to certain extent, the round spermatids, in adult testis (Zhang et al, 1992;Schnieders et al, 1996;Honecker et al, 2004;Lau, 2005, 2006), whereas TSPX is expressed ubiquitously in numerous cells/tissues (Ozbun et al, 2001(Ozbun et al, , 2003(Ozbun et al, , 2005Delbridge et al, 2004;Wang et al, 2004a;Lau et al, 2007). Such expression patterns suggest that TSPX could maintain a house-keeping function(s) in modulating cyclin B-CDK1 activities, and hence, cell-cycle progression, especially on G 2 /M transition, whereas TSPY has acquired various special functions pertaining to male stem germ cell proliferation and meiotic division.…”

Section: Discussionmentioning

confidence: 99%

TSPY and its X-encoded homologue interact with cyclin B but exert contrasting functions on cyclin-dependent kinase 1 activities

Lau

2008

Oncogene

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Testis-specific protein Y-encoded (TSPY) is the putative gene for the gonadoblastoma locus on the Y chromosome (GBY). TSPY and an X-homologue, TSPX, harbor a conserved domain, designated as SET/NAP domain, but differ at their C termini. Ectopic expression of TSPY accelerates cell proliferation by abbreviating the G 2 /M stage, whereas overexpression of TSPX retards cells at the same stage of the cell cycle. Previous studies demonstrated that the SET oncoprotein is capable of binding to cyclin B. Using various protein interaction techniques, we demonstrated that TSPY and TSPX indeed bind competitively to cyclin B at their SET/NAP domains in vitro and in vivo. TSPY colocalizes with cyclin B1 during the cell cycle, particularly on the mitotic spindles at metaphase. TSPY enhances while TSPX represses the cyclin B1-CDK1 phosphorylation activity. The inhibitory effect of TSPX on the cyclin B1-CDK1 complex has been mapped to its carboxyl acidic domain that is absent in TSPY, suggesting that TSPX could serve a normal function in modulating cell-cycle progression at the G 2 /M stage, whereas TSPY has acquired a specialized function in germ cell renewal and differentiation. Epigenetic dysregulation of TSPY in incompatible germ or somatic cells could promote cell proliferation and predispose susceptible cells to tumorigenesis.

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“…23 All gains are described using genomic co-ordinates consistent with Human Feb. 2009, Build 37 hg19 Assembly. Patient 1 had a 361 kb chromosome X duplication extending from chrX.hg19:g.52,954,520_53,315,542dup duplicating the short isoform of IQSEC2 and extends to FAM156A (Figure 2).…”

Section: Resultsmentioning

confidence: 99%

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

et al. 2015

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Copy number variations are a common cause of intellectual disability (ID). Determining the contribution of copy number variants (CNVs), particularly gains, to disease remains challenging. Here, we report four males with ID with sub-microscopic duplications at Xp11.2 and review the few cases with overlapping duplications reported to date. We established the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2 with one case also duplicating the known disease gene HUWE1. Patients with a duplication encompassing TSPYL2, KDM5C and IQSEC2 without gains of nearby SMC1A and HUWE1 genes have not been reported thus far. All cases presented with ID and significant deficits of speech development. Some patients also manifested behavioral disturbances such as hyperactivity and attention-deficit/ hyperactivity disorder. Lymphoblastic cell lines from patients show markedly elevated levels of TSPYL2, KDM5C and SMC1A, transcripts consistent with the extent of their CNVs. The duplicated region in our patients contains several genes known to escape X-inactivation, including KDM5C, IQSEC2 and SMC1A. In silico analysis of expression data in selected gene expression omnibus series indicates that dosage of these genes, especially IQSEC2, is similar in males and females despite the fact they escape from X-inactivation in females. Taken together, the data suggest that gains in Xp11.22 including IQSEC2 cause ID and are associated with hyperactivity and attention-deficit/hyperactivity disorder, and are likely to be dosage-sensitive in males.

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Transcriptional Modification by a CASK-Interacting Nucleosome Assembly Protein

Cited by 32 publications

References 4 publications

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

TSPY and its X-encoded homologue interact with cyclin B but exert contrasting functions on cyclin-dependent kinase 1 activities

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

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