Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24

Dörr, Sylvia; Midro, Alina T.; Färber, Claudia; Giannakudis, Joannis; Hansmann, I.

doi:10.1006/geno.2000.6413

Cited by 39 publications

(25 citation statements)

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“…In the hole cross test the extracts reduced the exploration capacity significantly (p < 0.05) which might be considered to be an index of depressors on CNS. A reduction in exploratory behavior with the extract is in conformity with similar actions produced by other CNS depressant drugs [18]. But it is difficult to separate the hole cross test from the open field test by which decreased the locomotor activity was measured.…”

Section: Discussionsupporting

confidence: 72%

Pharmacological investigation of selected medicinal plants of Bangladesh

Zulfiker¹,

Ma²,

Akter³

et al. 2014

Trop. J. Pharm Res

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Purpose: To pharmacologically investigate the methanol and petroleum ether extracts of the plant leaves of Manilkara zapota (MZME and MZPE, respectively), Abroma augusta (AAME and AAPE, respectively) and Vitex negundo (VNME and VNPE, respectively (highest protection: 80.3 %, p < 0.05) and VNME (lowest protection: 38.6 %, p < 0.001). The extracts demonstrated CNS depressant activity in a dose-dependent manner (p < 0.05 compared to the standard except for AAME and AAPE which showed insignificant activity). Conclusion:The results indicate that the traditional use of the investigated plants appears to be justified; however, further studies are required to unravel the underlying mechanisms of action.

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Section: Discussionsupporting

confidence: 72%

Pharmacological investigation of selected medicinal plants of Bangladesh

Zulfiker¹,

Ma²,

Akter³

et al. 2014

Trop. J. Pharm Res

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“…This BAC clone also contains ∼85 kb of the neurofibromatosis type 1 LCR, proximal NF1-REP. In addition, we found that the distal NF1-REP on 17q24 (RP11-147L13; AC005332; Dorschner et al 2000) maps directly adjacent to the breakpoint of the translocation t(1;17) associated with Russell-Silver syndrome (RSS; Dörr et al 2001). …”

Section: Genome Research 731mentioning

confidence: 98%

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Park¹,

Stankiewicz²,

Bi³

et al. 2002

Genome Res.

101

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An ∼4-Mb genomic segment on chromosome 17p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients with dup(17)(p11.2p11.2) syndrome, is flanked by large, complex low-copy repeats (LCRs), termed proximal and distal SMS-REP. A third copy, the middle SMS-REP, is located between them. SMS-REPs are believed to mediate nonallelic homologous recombination, resulting in both SMS deletions and reciprocal duplications. To delineate the genomic structure and evolutionary origin of SMS-REPs, we constructed a bacterial artificial chromosome/P1 artifical chromosome contig spanning the entire SMS region, including the SMS-REPs, determined its genomic sequence, and used fluorescence in situ hybridization to study the evolution of SMS-REP in several primate species. Our analysis shows that both the proximal SMS-REP (∼256 kb) and the distal copy (∼176 kb) are located in the same orientation and derived from a progenitor copy, whereas the middle SMS-REP (∼241 kb) is inverted and appears to have been derived from the proximal copy. The SMS-REP LCRs are highly homologous (>98%) and contain at least 14 genes/pseudogenes each. SMS-REPs are not present in mice and were duplicated after the divergence of New World monkeys from pre-monkeys ∼40-65 million years ago. Our findings potentially explain why the vast majority of SMS deletions and dup(17)(p11.2p11.2) occur at proximal and distal SMS-REPs and further support previous observations that higher-order genomic architecture involving LCRs arose recently during primate speciation and may predispose the human genome to both meiotic and mitotic rearrangements.

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“…1 As inferred earlier, mitochondrial disorders can manifest in various phenotypic classifications. We see in Tables 1 and 2 that MRP genes are candidates for dwarfism, growth retardation, and limb deformity disorders such as Russell-Silver Syndrome, 49,50 Stuve-Wiedemann Syndrome, 51 and Moebius Syndrome I. 52 Metabolic disorders for which MRP genes associate by map position are Multiple Mitochondrial Dysfunctions, 53 Stuve-Wiedemann Syndrome, 51 Leigh Syndrome, 54 and diabetes.…”

Section: Mrp Characterization Gene Identification and Mappingmentioning

confidence: 99%

Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

Sylvester

Fischel‐Ghodsian

Mougey

et al. 2004

Genetics in Medicine

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Most of the energy requirement for cell growth, differentiation, and development is met by the mitochondria in the form of ATP produced by the process of oxidative phosphorylation. Human mitochondrial DNA encodes a total of 13 proteins, all of which are essential for oxidative phosphorylation. The mRNAs for these proteins are translated on mitochondrial ribosomes. Recently, the genes for human mitochondrial ribosomal proteins (MRPs) have been identified. In this review, we summarize their refined chromosomal location. It is well known that mutations in the mitochondrial translation system, i.e., ribosomal RNA and transfer RNA cause various pathologies. In this review, we suggest possible associations between clinical conditions and MRPs based on coincidence of genetic map data and chromosomal location. These MRPs may be candidate genes for the clinical condition or may act as modifiers of existing known gene mutations (mt-tRNA, mt-rRNA, etc.). Genet Med 2004:6(2):73-80.

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Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24

Cited by 39 publications

References 50 publications

Pharmacological investigation of selected medicinal plants of Bangladesh

Pharmacological investigation of selected medicinal plants of Bangladesh

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Mitochondrial ribosomal proteins: Candidate genes for mitochondrial disease

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