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Titolo:
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16
Autore:
van de Sluis, BJA; Breen, M; Nanji, M; van Wolferen, M; de Jong, P; Binns, MM; Pearson, PL; Kuipers, J; Rothuizen, J; Cox, DW; Wijmenga, C; van Oost, BA;
Indirizzi:
Univ Utrecht, Dept Clin Sci Companion Anim, NL-3508 TA Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3508 TA 3508 TA Utrecht, Netherlands Univ Utrecht, Dept Human Genet, NL-3508 TA Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3508 TA 3508 TA Utrecht, Netherlands Univ Utrecht, Dept Immunol, NL-3508 TA Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3508 TA 3508 TA Utrecht, Netherlands Anim Hlth Trust, Ctr Prevent Med, Newmarket, Suffolk, England Anim Hlth Trust Newmarket Suffolk England d, Newmarket, Suffolk, England Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Univ Alberta Edmonton AB Canada ta, Dept Med Genet, Edmonton, AB, Canada Roswell Pk Canc Inst, Dept Human Genet, Buffalo, NY 14261 USA Roswell Pk Canc Inst Buffalo NY USA 14261 an Genet, Buffalo, NY 14261 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 3, volume: 8, anno: 1999,
pagine: 501 - 507
SICI:
0964-6906(199903)8:3<501:GMOTCT>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
WILSON DISEASE GENE; TRANSPORTING ATPASE; LEC RAT; MODEL; LINKAGE; MOUSE; FISH; METALLOTHIONEIN; IDENTIFICATION; LOCALIZATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Wijmenga, C WKZ, Ctr Genet Med, POB 85090, NL-3508 AB Utrecht, NetherlandsWKZ POB 85090 Utrecht Netherlands NL-3508 AB cht, Netherlands
Citazione:
B.J.A. van de Sluis et al., "Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16", HUM MOL GEN, 8(3), 1999, pp. 501-507

Abstract

Abnormal hepatic copper accumulation is recognized as an inherited disorder in man, mouse, rat and dog, The major cause of hepatic copper accumulation in man is a dysfunctional ATP7B gene, causing Wilson disease (WD), Mutations in the ATP7B genes have also been demonstrated in mouse and rat. The ATP7B gene has been excluded in the much rarer human copper overload disease non-indian childhood cirrhosis, indicating genetic heterogeneity. By investigating the common autosomal recessive copper toxicosis (CT) in Bedlington terriers, we have identified a new locus involved in progressive liver disease. We examined whether the WD gene ATP7B was also causative for CT by investigating the chromosomal co-localization of ATP7B and C04107, using fluorescence in situ hybridization (FISH), C04107 is an anonymous microsatellitemarker closely linked to CT. However, BAC clones containing ATP7B and C04107 mapped to the canine chromosome regions CFA22q11 and CFA10q26, respectively, demonstrating that WD cannot be homologous to CT. The copper transportgenes CTR1 and CTR2 were also excluded as candidate genes for CT since they both mapped to canine chromosome region CFA11q22.2-22.5. A transcribed sequence identified from the C04107-containing BAC was found to be homologousto a gene expressed from human chromosome 2p13-p16, a region devoid of anypositional candidate genes.

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Documento generato il 30/11/20 alle ore 07:00:13