A mutation in the pericentrin gene causes abnormal interneuron migration to the olfactory bulb in mice

Endoh-Yamagami, Setsu; Karkar, Kameel M.; May, S. Randolph; Cobos, Inma; Thwin, Myo T.; Long, Jason E.; Ashique, Amir M.; Zarbalis, Konstantinos; Rubenstein, John L.R.; Peterson, Andrew S.

doi:10.1016/j.ydbio.2010.01.017

Cited by 37 publications

(37 citation statements)

References 59 publications

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“…Among the 70 adaptively convergent genes, DYNC2H1 and PCNT are involved in limb development and their missense or null mutations result in a polydactyly phenotype and abnormal skeletogenesis in both mice and humans (25)(26)(27)(28). These findings suggest that convergent amino acid substitutions in these genes may introduce subtle changes in the functional spectrum of focal proteins and consequently contribute to pseudothumb development in both pandas.…”

Section: Significancementioning

confidence: 99%

Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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Phenotypic convergence between distantly related taxa often mirrors adaptation to similar selective pressures and may be driven by genetic convergence. The giant panda (Ailuropoda melanoleuca) and red panda (Ailurus fulgens) belong to different families in the order Carnivora, but both have evolved a specialized bamboo diet and adaptive pseudothumb, representing a classic model of convergent evolution. However, the genetic bases of these morphological and physiological convergences remain unknown. Through de novo sequencing the red panda genome and improving the giant panda genome assembly with added data, we identified genomic signatures of convergent evolution. Limb development genes DYNC2H1 and PCNT have undergone adaptive convergence and may be important candidate genes for pseudothumb development. As evolutionary responses to a bamboo diet, adaptive convergence has occurred in genes involved in the digestion and utilization of bamboo nutrients such as essential amino acids, fatty acids, and vitamins. Similarly, the umami taste receptor gene TAS1R1 has been pseudogenized in both pandas. These findings offer insights into genetic convergence mechanisms underlying phenotypic convergence and adaptation to a specialized bamboo diet.de novo genome | phenotype convergence | amino acid convergence | positive selection | pseudogenization

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Section: Significancementioning

confidence: 99%

Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

197

199

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“…Recent studies have linked a growing list of human disorders to mutated or elevated levels of pericentrin (2,5,6,21). Notably, pericentrin mutations have been shown to be present in all MOPDII patients examined, which confirmed the genetic homogeneity of this disorder (37,48).…”

Section: Discussionmentioning

confidence: 66%

“…Its orthologs kendrin (Homo sapiens), pericentrin (Mus musculus), Spc110 (Saccharomyces cerevisiae), Pcp1p (Schizosaccharomyces pombe), and centrosomin (Drosophila melanogaster) all contain the predicted coiled-coil secondary structure and the COOH-terminal calmodulin-binding region (6,8,9,26,41). In the budding yeast Saccharomyces cerevisiae, Spc110p facilitates mitotic spindle formation from the fungal centrosome, or spindle pole body (SPB) (8).…”

mentioning

confidence: 99%

“…Thus, studies that examine pericentrin's function at cellular, molecular, and organismal levels can help to generate models through which the etiology of these disorders may be better understood. Previous studies on disruption of the pericentrin gene in mice by insertional mutagenesis using gene trap technology that leads to embryonic lethality suggest that the Pcp1 homolog in mammalian cells is essential for animal survival (5,6). Thus, research on the function of the Pcp1 homolog has been conducted using RNA interference (RNAi)-mediated knockdown in cultured mammalian cells instead of knockout of pericentrin (54).…”

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confidence: 99%

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A Pericentrin-Related Protein Homolog in Aspergillus nidulans Plays Important Roles in Nucleus Positioning and Cell Polarity by Affecting Microtubule Organization

et al. 2012

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bPericentrin is a large coiled-coil protein in mammalian centrosomes that serves as a multifunctional scaffold for anchoring numerous proteins. Recent studies have linked numerous human disorders with mutated or elevated levels of pericentrin, suggesting unrecognized contributions of pericentrin-related proteins to the development of these disorders. In this study, we characterized AnPcpA, a putative homolog of pericentrin-related protein in the model filamentous fungus Aspergillus nidulans, and found that it is essential for conidial germination and hyphal development. Compared to the hyphal apex localization pattern of calmodulin (CaM), which has been identified as an interactive partner of the pericentrin homolog, GFP-AnPcpA fluorescence dots are associated mainly with nuclei, while the accumulation of CaM at the hyphal apex depends on the function of AnPcpA. In addition, the depletion of AnPcpA by an inducible alcA promoter repression results in severe growth defects and abnormal nuclear segregation. Most interestingly, in mature hyphal cells, knockdown of pericentrin was able to significantly induce changes in cell shape and cytoskeletal remodeling; it resulted in some enlarged compartments with condensed nuclei and anucleate small compartments as well. Moreover, defects in AnPcpA significantly disrupted the microtubule organization and nucleation, suggesting that AnPcpA may affect nucleus positioning by influencing microtubule organization.

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“…The contribution from Tgif2 in holoprosencephaly (failure of the embryonic forebrain to completely divide into two hemispheres) is still controversial (Shen and Walsh, 2005; Taniguchi et al, 2012). Notably, other genes not in our combined human and mouse candidate list, including Cdon , Dbi and Pcnt , also exhibit potential effects during neural development (Zhang et al, 2006; Oh et al, 2009; Buchman et al, 2010; Endoh-Yamagami et al, 2010; Alfonso et al, 2012). Loss of E2f5 does not perturb cell proliferation in the VZ during early development in mice (Lindeman et al, 1998), which might be due to the compensating effect of other E2F transcription factors (e.g., E2f1 ) (Yoshikawa, 2000; Cooper-Kuhn et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

A multi-resource data integration approach: identification of candidate genes regulating cell proliferation during neocortical development

et al. 2014

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Neurons of the mammalian neocortex are produced by proliferating cells located in the ventricular zone (VZ) lining the lateral ventricles. This is a complex and sequential process, requiring precise control of cell cycle progression, fate commitment and differentiation. We have analyzed publicly available databases from mouse and human to identify candidate genes that are potentially involved in regulating early neocortical development and neurogenesis. We used a mouse in situ hybridization dataset (The Allen Institute for Brain Science) to identify 13 genes (Cdon, Celsr1, Dbi, E2f5, Eomes, Hmgn2, Neurog2, Notch1, Pcnt, Sox3, Ssrp1, Tead2, Tgif2) with high correlation of expression in the proliferating cells of the VZ of the neocortex at early stages of development (E15.5). We generated a similar human brain network using microarray and RNA-seq data (BrainSpan Atlas) and identified 407 genes with high expression in the developing human VZ and subventricular zone (SVZ) at 8–9 post-conception weeks. Seven of the human genes were also present in the mouse VZ network. The human and mouse networks were extended using available genetic and proteomic datasets through GeneMANIA. A gene ontology search of the mouse and human networks indicated that many of the genes are involved in the cell cycle, DNA replication, mitosis and transcriptional regulation. The reported involvement of Cdon, Celsr1, Dbi, Eomes, Neurog2, Notch1, Pcnt, Sox3, Tead2, and Tgif2 in neural development or diseases resulting from the disruption of neurogenesis validates these candidate genes. Taken together, our knowledge-based discovery method has validated the involvement of many genes already known to be involved in neocortical development and extended the potential number of genes by 100's, many of which are involved in functions related to cell proliferation but others of which are potential candidates for involvement in the regulation of neocortical development.

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A mutation in the pericentrin gene causes abnormal interneuron migration to the olfactory bulb in mice

Cited by 37 publications

References 59 publications

Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas

Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas

A Pericentrin-Related Protein Homolog in Aspergillus nidulans Plays Important Roles in Nucleus Positioning and Cell Polarity by Affecting Microtubule Organization

A multi-resource data integration approach: identification of candidate genes regulating cell proliferation during neocortical development

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