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Functional Candidate Genes (functional + candidate_gene)

Distribution by Scientific Domains
Life Sciences60%
Medical Sciences40%

Selected Abstracts

Refinement of a quantitative trait locus on equine chromosome 5 responsible for fetlock osteochondrosis in Hanoverian warmblood horses

ANIMAL GENETICS, Issue 4 2009
V. Lampe
Summary In this report, we provide 29 new informative microsatellites distributed over a region of 21 Mb on horse chromosome (ECA) 5 and refine a quantitative trait locus (QTL) for fetlock osteochondrosis dissecans (OCD) to a genome-wide significant interval between 78.03 and 90.23 Mb on ECA5. Genotyping was performed in 211 Hanoverian warmblood horses from 14 paternal half-sib groups. Within this OCD-QTL, collagen type XXIV alpha 1 was identified as a potential functional candidate gene for equine osteochondrosis. This report is a further step towards unravelling the genes that cause equine osteochondrosis. [source]

From age correction to genome-wide association

ACTA PSYCHIATRICA SCANDINAVICA, Issue 5 2009
S. Cohen-Woods
Objective:, Eric Strömgren was one of the pioneers of psychiatric genetics and family studies. There has now been an explosion of interest in this field and research progress, including linkage and association studies, whole genome genotyping, copy number variants and epigenetics is reviewed here. Method:, An overview of this area of psychiatric research is presented and discussed based on the relevant literature aiming at giving a recent status of the progress. Results:, Broadly speaking linkage and association are complementary approaches used to locate genes contributing to the genetic aetiology of psychopathology. Linkage can be detected over comparatively large distances, however power is problematic when searching for quantitative trait loci with small effect sizes. In contrast, association studies can detect small effects but only over very small distances. Therefore, while several genome-wide linkage studies in psychiatric disorders have been performed, the majority of association studies have investigated specific functional candidate genes. Conclusion:, Due to very recent technological advancements, genome-wide association studies have now become possible and have identified some completely novel susceptibility loci. Other recent advances include the discovery of epigenetic phenomena and copy number variants. [source]

Variation in Galr1 expression determines susceptibility to excitotoxin-induced cell death in mice

GENES, BRAIN AND BEHAVIOR, Issue 5 2008
S. Kong
Inbred strains of mice differ in their susceptibility to excitotoxin-induced cell death, but the genetic basis of individual variation in differential susceptibility is unknown. Previously, we identified a highly significant quantitative trait locus (QTL) on chromosome 18 that influenced susceptibility to kainic acid-induced cell death (Sicd1). Comparison of susceptibility to seizure-induced cell death between reciprocal congenic lines for Sicd1 and parental background mice indicates that genes influencing this trait were captured in both strains. Two positional gene candidates, Galr1 and Mbp, map to 55 cM, where the Sicd1 QTL had been previously mapped. Thus, this study was undertaken to determine if Galr1 and/or Mbp could be considered as candidate genes. Genomic sequence comparison of these two functional candidate genes from the C57BL/6J (resistant at Sicd1) and the FVB/NJ (susceptible at Sicd1) strains showed no single-nucleotide polymorphisms. However, expression studies confirmed that Galr1 shows significant differential expression in the congenic and parental inbred strains. Galr1 expression was downregulated in the hippocampus of C57BL/6J mice and FVB.B6- Sicd1 congenic mice when compared with FVB/NJ or B6.FVB- Sicd1 congenic mice. A survey of Galr1 expression among other inbred strains showed a significant effect such that ,susceptible' strains showed a reduction in Galr1 expression as compared with ,resistant' strains. In contrast, no differences in Mbp expression were observed. In summary, these results suggest that differential expression of Galr1 may contribute to the differences in susceptibility to seizure-induced cell death between cell death-resistant and cell death-susceptible strains. [source]

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2002
Joy Irobi
Abstract Distal hereditary motor neuropathies (distal HMNs) are characterized by degeneration of anterior horn cells of the spinal cord resulting in muscle weakness and atrophy. Distal HMN type II is genetically linked to chromosome 12q24.3 and located within a 13 cM region flanked by D12S86 and D12S340. We previously excluded 5 positional and functional candidate genes for distal HMN II. Here, we report the exclusion of 12 additional candidate genes localized within the distal HMN II region; the genes include musashi (Drosophila) homolog 1 (MSI1), protein inhibitor of neuronal nitric oxide synthase (PIN), peripherin (PRPH), tubulin alpha ubiquitous (K-ALPHA-1), tubulin alpha 3 (TUBA3), tubulin alpha 6 (TUBA6), splicing factor arginine/serine-rich 9 (SFRS9), U5 snRNP 100 kd (U5-100K), putative chemokine receptor, GTP-binding protein (HM74), MondoA, cut (Drosophila)-like homeobox 2 (CUX2) and ADP-ribosylation factor 3 (ARF3). [source]

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

ANNALS OF HUMAN GENETICS, Issue 6 2001
J. IROBI
Distal hereditary motor neuropathies (distal HMNs) are characterised by degeneration of anterior horn cells of the spinal cord resulting in muscle weakness and atrophy. Distal HMN type II is genetically linked to chromosome 12q24.3 and located within a 13 cM region flanked by markers D12S86 and D12S340. We previously excluded the human phospholipase A2 group 1B gene (PLA2G1B) as the disease causing gene. Here, we report the mutation analysis of five other candidate genes localised within the distal HMN II region: the cytoskeletal proteins paxillin (PXN) and restin (RSN); the acidic ribosomal phosphoprotein, large P0 subunit (RPLP0); a nucleoside diphosphate kinase (NME2B); and the , 3 subunit of the voltage-gated calcium channel (CACNB3). DNA sequencing of the coding regions was performed but no disease causing mutations could be identified, hence excluding these five genes for distal HMN type II. [source]