A First High-Density Map of 981 Biallelic Markers on Human Chromosome 14

Escary, Jean-Louis; Bottius, Emmanuel; Prince, Nathalie; Réyès, Cécile; Fiawoumo, Yao; Caloustian, Christophe; Brüls, Thomas; Fujiyama, T. Asao; Cooper, Richard S.; Adeyemo, Adebowale; Lathrop, G.M.; Weissenbach, Jean; Gyapay, Gábor; Foglio, T. Mario; Beckmann, Jacques S.

doi:10.1006/geno.2000.6369

Cited by 4 publications

(3 citation statements)

References 25 publications

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“…For SNP discovery, seven fragments, covering most of the coding region of the ACHE gene, were analyzed by denaturing high performance liquid chromatography (DHPLC), using a WAVE DNA fragment analysis system (Transgenomics, Omaha, NE) [Bercovich and Beaudet, 2003;Escary et al, 2000;Yaron et al, 2002] in 96 unrelated individuals (192 chromosomes): 32 African Americans, 32 Ashkenazi Jews, and 32 Israeli Arabs. The PCR products were denatured at 951C for 5 min and cooled to 651C at a temperature gradient of 11C/min.…”

Section: Snp Discoverymentioning

confidence: 99%

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene

et al. 2004

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Acetylcholinesterase (AChE) plays a crucial physiological role in termination of impulse transmission at cholinergic synapses through rapid hydrolysis of acetylcholine. It is a highly conserved molecule, and only a few naturally occurring genetic polymorphisms have been reported in the human gene. The goal of the present study was to make a systematic effort to identify natural single nucleotide polymorphisms (SNPs) in the human ACHE gene. To this end, the genomic coding sequences for acetylcholinesterase of 96 unrelated control individuals from three distinct ethnic groups were analyzed. A total of 13 ACHE SNPs were identified, 10 of which are newly described, and five that should produce amino acid substitutions [c.101G>A (p.Arg34Gln), c.169G>A (p.Gly57Arg), c.1031A>G (p.Glu344Gly), c.1057C>A (p.His353Asn), and c.1775C>G (p.Pro592Arg)]. Population frequencies of 11 of the 13 SNPs were established in four different populations: African Americans, Ashkenazi Jews, Sephardic Jews, and Israeli Arabs; 15 haplotypes and five ethnospecific alleles were identified. The low number of SNPs identified until now in the ACHE gene is ascribed to technical hurdles arising from the high GC content and the presence of numerous repeat sequences, and does not reflect its intrinsic heterozygosity. Among the SNPs resulting in an amino acid substitution, three are within the mature protein, mapping on its external surface: they are thus unlikely to affect its catalytic properties, yet could have antigenic consequences or affect putative protein-protein interactions. Furthermore, the newly identified SNPs open the door to a study of the possible association of AChE with deleterious phenotypes-such as adverse drug responses to AChE inhibitors employed in treatment of Alzheimer patients and hypersensitivity to pesticides.

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Section: Snp Discoverymentioning

confidence: 99%

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene

et al. 2004

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“…A dense genetic map of 459 novel non-redundant SNPs and 21 small insertions/deletions were identified from 825 chromosome 14 expressed sequence tagged and sequence tagged site sequences, by the screening of 12 unrelated Nigerians. 21 An additional 501 SNPs, identified by the screening of several world wide ethnic groups, were obtained from the public SNP database (www.ncbi.nlm.nih.gov/SNP). Of the 981 non-redundant biallelic genetic markers, 273 SNPs were located within 159 known genes with a range of two to 20 polymorphisms per gene.…”

mentioning

confidence: 99%

Current status of human chromosome 14

Kamnasaran

Cox²

2002

Journal of Medical Genetics

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“…For SNP discovery, seven fragments, covering most of the coding region of the ACHE gene, were analyzed by denaturing high performance liquid chromatography (DHPLC), using a WAVE DNA fragment analysis system (Transgenomics, Omaha, NE) [25][26][27] in 96 unrelated individuals (192 chromosomes), viz. 32 African Americans, 32 Ashkenazi Jews, and 32 Israeli Arabs.…”

Section: Snp Discoverymentioning

confidence: 99%

Analysis of Genetic Polymorphisms in Acetylcholinesterase as Reflected in Different Populations

Hasin

Avidan²,

Bercovich³

et al. 2005

CAR

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Acetylcholinesterase (AChE) plays a crucial physiological role in termination of impulse transmission at cholinergic synapses through rapid hydrolysis of acetylcholine. In addition, it was implicated in amyloid plaque formation, a hallmark of Alzheimer's disease (AD), and most of the drugs used in AD treatment are AChE inhibitors. Thus ACHE is an obvious candidate gene for pharmacogenetic study of AD treatment. However, AChE is a highly conserved molecule, and only a few naturally occurring genetic polymorphisms have been reported in the human gene. The goals of this study were to make a systematic effort to identify natural single nucleotide polymorphisms (SNPs) in the human ACHE gene, and to reveal their population specific architecture. To this end, the genomic coding sequences for AChE of 96 unrelated control individuals from three distinct ethnic groups, African Americans, Ashkenazi Jews and Israeli Arabs, were analyzed. Thirteen ACHE SNPs were identified, ten of which are newly described, and five of which should produce amino-acid substitutions (Arg34Gln, Gly57Arg, Glu344Gly, His353Asn and Pro592Arg). Population frequencies of 11 of the 13 SNPs were established in four different populations, African Americans, Ashkenazi Jews, Sephardic Jews and Israeli Arabs; 17 haplotypes and 5 ethno-specific alleles were identified, and a cladogram of ACHE haplotypes was constructed. Among the SNPs resulting in an amino-acid substitution, three are within the mature protein, mapping on its external surface; they are thus unlikely to affect its catalytic properties, yet could have antigenic consequences or affect putative protein-protein interactions. Furthermore, the newly identified SNPs open the door to a study of the possible association of AChE with deleterious phenotypes - such as adverse drug responses to AChE inhibitors employed in treatment of AD patients and hypersensitivity to pesticides.

show abstract

A First High-Density Map of 981 Biallelic Markers on Human Chromosome 14

Cited by 4 publications

References 25 publications

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene

A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene

Current status of human chromosome 14

Analysis of Genetic Polymorphisms in Acetylcholinesterase as Reflected in Different Populations

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