Mapping and expression analysis of the human CASK gene

Stevenson, David; Laverty, Hugh; Wenwieser, Sandra V. C. T.; Douglas, Morag; Wilson, Joanna B.

doi:10.1007/s003350010170

Cited by 36 publications

(37 citation statements)

References 19 publications

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“…7 It is located at both the postsynaptic membrane of central nervous synapses and within the nuclei of neurons and is ubiquitously expressed with a significantly higher expression in the foetal brain. 8,9 Different domains of the CASK protein interact with more than a dozen different proteins and may be involved in synaptic interaction, protein trafficking and regulation of gene expression during neural development. [9][10][11][12] To determine whether nystagmus and/or microcephaly associated with MR were good clinical indicators of CASK mutations, we screened an additional 45 probands with MR plus either nystagmus or microcephaly.…”

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confidence: 99%

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

et al. 2009

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mentioning

confidence: 99%

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

et al. 2009

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“…The region that hybridised Y specifically contains genes and pseudogenes that have X homologues residing within Xp11.4 to Xp11.2 (Fig. 1B) (Jones et al, 1996;Page 1997, 1999;Yoshikawa et al, 1998;Greenfield et al, 1998;Sun et al, 1999;Stevenson et al, 2000). In analogy to the Y-derived clones, FISH with the X-derived clones for USP9X, DBX and UTX resulted in an X-specific hybridisation pattern with no cross-hybridisation on the Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

The Azoospermia region AZFa: An evolutionar y view

Wimmer

Kirsch

Weber

et al. 2002

Cytogenet Genome Res

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Compared to other regions on the human Y chromosome, the genomic segment encompassing the functionally defined AZFa locus has undergone higher X–Y sequence divergence, which is detectable by fluorescence in-situ hybridisation. This allows an evolutionary definition of an interval enclosing AZFa with a size of about 1.1 Mb. The region includes the genes USP9Y, DBY and UTY and is limited by evolutionary breakpoints within the PAC clones 41L06 and 46M11. These breakpoints restrict an area of possible male specific evolution that may have resulted in the acquisition of male specific functions, including a role in spermatogenesis.

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“…The smallest known CASK gene orthologue exists in a multicellular organism belonging to the placozoan class, Trichoplax adhaerens ( Figure 1). The size of this CASK orthologue is only ∼8 kbp, approximately the same size as the mature CASK transcript in humans [21]. The largest known CASK gene orthologue is seen in primitive new world monkeys called common marmosets (Callithrix jacchus) and exceeds the human CASK gene size by 50 kbp.…”

Section: Gene Sizementioning

confidence: 98%

Structural constraints and functional divergences in CASK evolution

LaConte

Mukherjee

2013

Biochemical Society Transactions

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CASK (Ca2+/calmodulin-activated serine kinase) is a synaptic protein that interacts with the cytosolic tail of adhesion molecules such as neurexins, syncam and syndecans. It belongs to the MAGUK (membrane-associated guanylate kinase) family of scaffolding proteins which are known to decorate cell-cell junctions. CASK is an essential gene in mammals, critical for neurodevelopment. Mutations in the CASK gene in humans result in phenotypes that range from intellectual disability to lethality. Despite its importance, CASK has a single genetic isoform located in the short arm of the X chromosome near an evolutionary breakpoint. Surprisingly, CASK is a non-essential gene in invertebrates and displays functional divergence. In the present article, we describe the phylogenetic differences in existing CASK orthologues. The CASK gene has undergone a huge expansion in size (~55-fold). Almost all of this expansion is a direct result of an increase in the size of the introns. The coding region of CASK orthologues, and hence the protein, exhibit a high degree of evolutionary conservation. Within the protein, domain arrangement is completely conserved and substitution rates are higher in the connecting loop regions [L27 (Lin2, Lin7)] than within the domain. Our analyses of single residue substitutions and genotype-phenotype relationships suggest that, other than intronic expansion, the dramatic functional changes of CASK are driven by subtle (non-radical) primary structure changes within the CASK protein and concomitant changes in its protein interactors.

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Mapping and expression analysis of the human CASK gene

Cited by 36 publications

References 19 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

The Azoospermia region AZFa: An evolutionar y view

Structural constraints and functional divergences in CASK evolution

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