Homology between human Chromosome 2p13.3 and the wobbler critical region on mouse Chromosome 11: comparative high-resolution mapping of STS and EST loci on YAC/BAC contigs

Resch, Karin; Korthaus, Dirk; Wedemeyer, Niels; Lengeling, Andreas; Ronsiek, Melanie; Thiel, Christian; Baer, Kristin; Jockusch, Harald; Schmitt-John, Thomas

doi:10.1007/s003359900890

Cited by 19 publications

(23 citation statements)

References 26 publications

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“…A literature survey shows that mutations of the proximal regions of chromosomes 2 and 11 are associated with cerebellar ataxias. The critical regions for the Stumbler and Wobbler ataxia models map to the proximal regions of chromosomes 2 and 11, respectively (Frankel et al 1994;Resch et al 1998).…”

Section: Spatial Distribution Of Neuronal Centromeresmentioning

confidence: 99%

Cell-type specific proximity of centromeric domains of one homologue each of chromosomes 2 and 11 in nuclei of cerebellar Purkinje neurons

Vadakkan

Boni

2006

Chromosoma

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In Purkinje neurons of the mouse cerebellum, the centromeres of several chromosomes are placed in close proximity to form a distinct pattern of clusters and exhibit reproducible spatial redistributions during development. In granule neurons, an adjacent cell type in the cerebellum, the pattern, size, and number of centromeric aggregations are different from those of Purkinje neurons. The present work was undertaken to test the hypothesis that the same chromosomes form part of one aggregate in a cell-type-specific manner. Fluorescence in situ hybridization (FISH) with chromosome-specific paracentromeric probes was used to identify centromeric regions of individual chromosomes in cerebellar Purkinje and granule neurons of the adult mouse. When pairs of centromeric probes were used in two-color FISH, one homologue each of chromosomes 2 and 11 were routinely found close to each other in Purkinje neurons but not in granule neurons. This finding of specific proximity was limited to the pair 2 and 11, out of the ten chromosome pairs that were randomly selected and studied. Our results indicate that, in adult Purkinje neurons, a cell-type-specific spatial proximity is present between centromeric domains of one homologue each of chromosomes 2 and 11.

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Section: Spatial Distribution Of Neuronal Centromeresmentioning

confidence: 99%

Cell-type specific proximity of centromeric domains of one homologue each of chromosomes 2 and 11 in nuclei of cerebellar Purkinje neurons

Vadakkan

Boni

2006

Chromosoma

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“…So far Pellino homologues have been identified in Caenorhabditis elegans (Rich et al, 2000) and the urochordate Ciona intestinalis, in which expression was found in the notochord (Hotta et al, 2000). In the course of the positional cloning of the neurological mutation wobbler of the mouse (Resch et al, 1998) we found an EST homologous to the Drosophila gene coding for Pellino. We therefore isolated cDNAs and characterized the genes of Pellino homologues in man and mouse.…”

Section: Rationale and Significancementioning

confidence: 98%

“…Mapping of Pellino 1 was performed physically on well-established YAC contigs of mouse and man (Resch et al, 1998). Pellino 2 was mapped by radiation hybrids using GeneBridge4 RH Panel for man and T31 mouse/ hamster radiation hybrid panel for mouse, both panels were obtained from Research Genetics (Huntsville).…”

Section: Methodsmentioning

confidence: 99%

Assignment<footref rid="foot01">1</footref> of homologous genes, Peli1/PELI1 and Peli2/PELI2, for the Pelle adaptor protein Pellino to mouse chromosomes 11 and 14 and human chromosomes 2p13.3 and 14q21, respectively, by physical and radiation hybrid mapping

Resch

Jockusch

Schmitt-John

2001

Cytogenet Genome Res

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“…The wobbler mouse is an animal model of importance since it is considered as a model for sALS, representing approximately 90% of all ALS cases [7][8][9], although the wobbler mutation does not seem to be a common reason for ALS [10,11]. Palmisano and co-workers described enlarged vesicles in wobbler mice α-motor neurons (αMN) [12], which indicate an impaired trafficking in wobbler mice, like six out of fourteen human sALS cases.…”

Section: Immunofluorescence Staining Of Nfh/pnfhmentioning

confidence: 99%

Morphological Studies of Wobbler Mouse Dorsal Root Ganglia Show Neurofilamental Disorders

Ott¹,

Dahlke²,

Saberi³

et al. 2017

J Neurol Exp Neurosci

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with three described forms: The abundant, sporadic ALS (sALS) with approximately 90% of cases, the familial ALS (fALS) with 5-10%, and the very rare juvenile ALS (jALS) group, which is statistically less relevant. The wobbler mouse, a model for sALS, has been in the focus of research for many decades. Due to symptoms strongly resembling the human ALS pathology, the α-motor neurons (αMN) have received the most attention. With regard to pathological cellular processes, particularly those of impaired axonal transport, neuronal tissues in general should be examined. Dorsal root ganglia (DRG) cells are equipped with extremely long axons. Thus, we expected them to be an excellent target for analyzing the cellular mechanisms underlying the disease. In this study, an analysis of the distribution of heavy neurofilaments (NfH) in the perikarya and peripheral nerves of dorsal root ganglia cells from wobbler mice was performed. Here, we demonstrate that sensory neurons are also affected in wobbler mice during the progression of the disease, showing signs of degeneration like those described in the αMN. Furthermore, a highly impaired distribution of neurofilaments and a high number of phosphorylated heavy neurofilaments (pNfH) were observed, not only in large light neurons (LLN), but also in the small dark neurons (SDN) of wobbler mouse DRGs. The accumulation of pNfH in DRG as well as the loss of NfH in their axons are promising links to studies promoting high levels of pNfH in the cerebrospinal fluid (CSF) as an early hallmark of ALS in humans. KeywordsDorsal root ganglia, Amyotrophic lateral sclerosis, Wobbler, Neurofilaments, Neurodegeneration IntroductionNeurological diseases, and in particular motor neuron diseases (MND), have a great impact on a patient's quality of life. ALS is a common MND with an incidence of 1-3 cases per 100.000 per year and a prevalence of 3-8 per 100.000, with men being more often affected than women. The average survival is 3 years after the onset of ALS symptoms, typically between the ages of 55 to 60 [1]. Many pathological mechanisms have already been well investigated in animal models with ALS-like phenotypes, however comparison to the human ALS pathology is difficult. A treatment substantially modifying the diseases progression is still lacking. The well-known degeneration of the upper and lower motor neurons are common in the murine models as well as in humans. This

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Homology between human Chromosome 2p13.3 and the wobbler critical region on mouse Chromosome 11: comparative high-resolution mapping of STS and EST loci on YAC/BAC contigs

Cited by 19 publications

References 26 publications

Cell-type specific proximity of centromeric domains of one homologue each of chromosomes 2 and 11 in nuclei of cerebellar Purkinje neurons

Cell-type specific proximity of centromeric domains of one homologue each of chromosomes 2 and 11 in nuclei of cerebellar Purkinje neurons

Assignment<footref rid="foot01"><sup>1</sup></footref> of homologous genes, <i>Peli1</i>/PELI1 and <i>Peli2</i>/PELI2, for the Pelle adaptor protein Pellino to mouse chromosomes 11 and 14 and human chromosomes 2p13.3 and 14q21, respectively, by physical and radiation hybrid mapping

Morphological Studies of Wobbler Mouse Dorsal Root Ganglia Show Neurofilamental Disorders

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