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1. (WO2007002735) BOVINE ABCG2 GENE MISSENSE MUTATIONS AND USES THEREOF
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/2007/002735 International Application No.: PCT/US2006/025117
Publication Date: 04.01.2007 International Filing Date: 28.06.2006
IPC:
C12Q 1/68 (2006.01)
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
68
involving nucleic acids
Applicants:
THE BOARD OF TRUSTEES OF THE UNIVERSITY OF ILLINOIS [US/US]; 352 Henry Administration Building, MC-350 506 South Wright Street Urbana, IL 61801, US (AllExceptUS)
THE STATE OF ISRAEL, MINISTRY OF AGRICULTURE AND RURAL DEVELOPMENT, AGRICULTURAL RESEARCH ORGANIZATION, VOLCANI CENTER [IL/IL]; Kidum R & D Applications Unit P.O.B 6 Bet Dagan 50250, IL (AllExceptUS)
SEROUSSI, Eyal [IL/IL]; IL (UsOnly)
LEWIN, Harris, A. [US/US]; US (UsOnly)
BAND, Mark, R. [US/US]; US (UsOnly)
COHEN-ZINDER, Miri [IL/IL]; IL (UsOnly)
DRACKLEY, James, K. [US/US]; US (UsOnly)
LARKIN, Denis, M. [RU/US]; US (UsOnly)
LOOR, Juan, J. [US/US]; US (UsOnly)
RON, Micha [IL/IL]; IL (UsOnly)
SHANI, Moshe [IL/IL]; IL (UsOnly)
WELLER, Joel, Ira [IL/IL]; IL (UsOnly)
Inventors:
SEROUSSI, Eyal; IL
LEWIN, Harris, A.; US
BAND, Mark, R.; US
COHEN-ZINDER, Miri; IL
DRACKLEY, James, K.; US
LARKIN, Denis, M.; US
LOOR, Juan, J.; US
RON, Micha; IL
SHANI, Moshe; IL
WELLER, Joel, Ira; IL
Agent:
MARTIN, Alice, O. ; Barnes & Thornburg LLP P.O. Box 2786 Chicago, IL 60690-2786, US
Priority Data:
60/694,43028.06.2005US
60/696,29401.07.2005US
Title (EN) BOVINE ABCG2 GENE MISSENSE MUTATIONS AND USES THEREOF
(FR) MUTATIONS FAUX SENS DU GENE BOVIN ABCG2 AINSI QU'UTILISATION DE CELLES-CI
Abstract:
(EN) A quantitative trait locus (QTL) affecting milk fat and protein concentration was localized to a 4cM confidence interval on chromosome 6 centered on the microsatellite BM143. The genes and sequence variation in this region were characterized, and common haplotypes spanning five polymorphic sites in the genes IBSP, SPP1, PKD2, and ABCG2 for two sires heterozygous for this QTL were localized. Expression of SPP1 and ABCG2 in the bovine mammary gland increased from parturition through lactation. SPP1 was sequenced, and all the coding exons of ABCG2 and PKD2 were sequenced for these two sires. The single nucleotide change capable of encoding a substitution of tyrosine-581 to serine (Y581S) in the ABCG2 transporter was the only polymorphism corresponding to the segregation status of all three heterozygous and 15 homozygous sires for the QTL in the Israeli and US Holstein populations.
(FR) L'invention concerne un locus quantitatif (QTL) agissant sur les graisses du lait et la concentration de protéines, lequel a été localisé à un intervalle de confiance 4cM sur le chromosome 6 centré sur les microsatellites BM143. Les gènes et variations de séquence dans cette région ont été caractérisés, et des haplotypes communs découpant cinq sites polymorphiques dans les gènes IBSP, SPP1, PKD2, et ABCG2 pour deux géniteurs hétérozygotes pour ce QTL ont été localisés. L'expression de SPP1 et ABCG2 dans la glande mammaire bovine a augmenté depuis la parturition et pendant la lactation. SPP1 a été séquencée, et tous les exons de codage de ABCG2 et PKD2 on été séquencés pour ces deux géniteurs. L'unique modification nucléotidique capable de coder une substitution de tyrosine-581 en sérine (Y581S) dans le transporteur ABCG2 était l'unique polymorphisme correspondant au statut de ségrégation des trois géniteurs hétérozygotes et des quinze géniteurs homozygotes pour le QTL dans les populations israéliennes et Holstein américaine.
Designated States: AE, AG, AL, AM, AT, AU, AZ, BA, BB, BG, BR, BW, BY, BZ, CA, CH, CN, CO, CR, CU, CZ, DE, DK, DM, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KM, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LV, LY, MA, MD, MG, MK, MN, MW, MX, MZ, NA, NG, NI, NO, NZ, OM, PG, PH, PL, PT, RO, RS, RU, SC, SD, SE, SG, SK, SL, SM, SY, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HU, IE, IS, IT, LT, LU, LV, MC, NL, PL, PT, RO, SE, SI, SK, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)
Also published as:
NO20076339MXMX/a/2007/015787IL188257EP1896616BRPI0613750-4CA2613316
NZ564323AU2006261660