Voltage-Gated Potassium Channel Genes Are Clustered in Paralogous Regions of the Mouse Genome

Lock, Leslie F.; Gilbert, Debra J.; Street, Valerie A.; Migeon, Mary B.; Jenkins, Nancy A.; Copeland, Neal G.; Tempel, Bruce L.

doi:10.1006/geno.1994.1188

Cited by 34 publications

(17 citation statements)

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“…Although voltage-gated Na ϩ and K ϩ channel genes are thought to share distant common ancestry, they are clearly present in invertebrates as separate gene families (Lock et al, 1994;Plummer and Meisler, 1999;Goldin, 2002). We found no examples of invertebrate KCNQ or Na V genes containing the ankyrin-G interaction motif (Fig.…”

Section: Discussionmentioning

confidence: 71%

A Common Ankyrin-G-Based Mechanism Retains KCNQ and Na_VChannels at Electrically Active Domains of the Axon

et al. 2006

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KCNQ (K V 7) potassium channels underlie subthreshold M-currents that stabilize the neuronal resting potential and prevent repetitive firing of action potentials. Here, antibodies against four different KCNQ2 and KCNQ3 polypeptide epitopes show these subunits concentrated at the axonal initial segment (AIS) and node of Ranvier. AIS concentration of KCNQ2 and KCNQ3, like that of voltage-gated sodium (Na V ) channels, is abolished in ankyrin-G knock-out mice. A short motif, common to KCNQ2 and KCNQ3, mediates both in vivo ankyrin-G interaction and retention of the subunits at the AIS. This KCNQ2/KCNQ3 motif is nearly identical to the sequence on Na V ␣ subunits that serves these functions. All identified Na V and KCNQ genes of worms, insects, and molluscs lack the ankyrin-G binding motif. In contrast, vertebrate orthologs of Na V ␣ subunits, KCNQ2, and KCNQ3 (including from bony fish, birds, and mammals) all possess the motif. Thus, concerted ankyrin-G interaction with KCNQ and Na V channels appears to have arisen through convergent molecular evolution, after the division between invertebrate and vertebrate lineages, but before the appearance of the last common jawed vertebrate ancestor. This includes the historical period when myelin also evolved.

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Section: Discussionmentioning

confidence: 71%

A Common Ankyrin-G-Based Mechanism Retains KCNQ and Na_VChannels at Electrically Active Domains of the Axon

et al. 2006

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“…This marker is located between the Généthon markers D20S886 and D20S109, which places SNAIL at chromosome 20q13.2. The potassiumchannel voltage-gated, Shab-related subfamily, member 1, KCNB1, is also localized to 20q13.2 (OMIM 600397, http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/ dispmim?600397; Melis et al, 1995) while the murine homologues Snail (Jiang et al, 1997) and Kcnb1 (Lock et al, 1994) are both located on murine chromosome 2 at 97.0 cM. This is consistent with the extensive homology between human chromosome 20 and the distal region of mouse chromosome 2.…”

Section: Human Snail Gene Maps To Chromosome 20 and No Mutations Werementioning

confidence: 99%

Genomic Organization, Expression, and Chromosome Location of the Human SNAIL Gene (SNAI1) and a Related Processed Pseudogene (SNAI1P)

et al. 1999

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“…Anchor loci are shown in bold; the figures to the left of the genetic map are genetic distances in cM from the centromere (Hillyard et al 1993). Mapping data were taken from Siracusa & Abbott, 1993;Klocke et al 1993;Matsunami et al 1993;Abbott et al 1994;Laurent et al 1994;Li et al 1994;Lock et al 1994;Malas et al 1994;Peters et al 1994;Williamson et al 1994 and Dutton et al, personal communication. associated with paternal duplication can be rescued by a maternally derived distal Chr 2 and vice versa for a maternal duplication suggests that at least two genes are imprinted in opposite directions . From genetic studies the imprinting region is defined as lying between the breakpoints of two reciprocal translocations T(2; 8) 2Wa in band H3 and T(2; 16)28H in band H4 and is estimated to be about 20 cM in genetic length and probably only 7-5 Mb in physical size (Cattanach et al 1992;Peters et al 1994).…”

Section: Introductionmentioning

confidence: 99%

Thirteen genes (Cebpb, E2f1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1andRcad) that probably lie in the distal imprinting region of mouse Chromosome 2 are not monoallelically expressed

et al. 1995

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SummarySeven imprinted genes are currently known in the mouse but none have been identified yet in the distal imprinting region of mouse Chromosome (Chr) 2, a region which shows striking linkage conservation with human chromosome 20q13. Both maternal duplication/paternal deficiency and its reciprocal for distal Chr 2 lead to mice with abnormal body shapes and behavioural abnormalities. We have tested a number of candidate genes, that are either likely or known to lie within the distal imprinting region, for monoallelic expression. These included 3 genes (Cebpb, E2f1 and Tcf4) that express transcription factors, 2 genes (Cyp24 and Pck1) that are involved in growth, 5 genes (Acra4, Edn3, Kcnb1, Mc3r and Ntsr) where a defect could lead to neurological and probably behavioural problems, and 3 genes (Cd40, Plcg1 and Rcad) that are less obvious candidates but sequence information was available for designing primers to test their expression. On/off expression of each gene was tested by reverse transcription–polymerase chain reaction (RT–PCR) analysis of RNA extracted from tissues of mice with maternal duplication/paternal deficiency and its reciprocal for the distal region of Chr 2. None of the 13 genes is monoallelically expressed in the appropriate tissues before and shortly after birth which suggests that these genes are not imprinted later in development. This study has narrowed down the search for imprinted genes, and valuable information on which genes have been tested for on/off expression is provided. Since there is considerable evidence of conservation of imprinting between mouse and human, we would predict that the 13 genes are not imprinted in human. Five of the genes: E2f1, Tcf4, Kcnb1, Cd40 and Rcad, have not yet been mapped in human. However, because of the striking linkage conservation observed between mouse Chr 2 and human chromosome 20, we would expect these genes to map on human chromosome 20q13.

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Voltage-Gated Potassium Channel Genes Are Clustered in Paralogous Regions of the Mouse Genome

Cited by 34 publications

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A Common Ankyrin-G-Based Mechanism Retains KCNQ and Na_VChannels at Electrically Active Domains of the Axon

A Common Ankyrin-G-Based Mechanism Retains KCNQ and Na_VChannels at Electrically Active Domains of the Axon

Genomic Organization, Expression, and Chromosome Location of the Human SNAIL Gene (SNAI1) and a Related Processed Pseudogene (SNAI1P)

Thirteen genes (Cebpb, E2f1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1andRcad) that probably lie in the distal imprinting region of mouse Chromosome 2 are not monoallelically expressed

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Voltage-Gated Potassium Channel Genes Are Clustered in Paralogous Regions of the Mouse Genome

Cited by 34 publications

References 0 publications

A Common Ankyrin-G-Based Mechanism Retains KCNQ and NaVChannels at Electrically Active Domains of the Axon

A Common Ankyrin-G-Based Mechanism Retains KCNQ and NaVChannels at Electrically Active Domains of the Axon

Genomic Organization, Expression, and Chromosome Location of the Human SNAIL Gene (SNAI1) and a Related Processed Pseudogene (SNAI1P)

Thirteen genes (Cebpb, E2f1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1andRcad) that probably lie in the distal imprinting region of mouse Chromosome 2 are not monoallelically expressed

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A Common Ankyrin-G-Based Mechanism Retains KCNQ and Na_VChannels at Electrically Active Domains of the Axon

A Common Ankyrin-G-Based Mechanism Retains KCNQ and Na_VChannels at Electrically Active Domains of the Axon