The reticulocalbin gene maps to the WAGR region in human and to the small eye Harwell deletion in mouse

被引：46

作者：

Kent, J

Lee, M

Schedl, A

Boyle, S

Fantes, J

Powell, M

Rushmere, N

Abbott, C

vanHeyningen, V

Bickmore, WA

机构：

[1] WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND

[2] UNIV WALES COLL MED,DEPT MED BIOCHEM,CARDIFF CF4 4XX,S GLAM,WALES

[3] UNIV EDINBURGH,WESTERN GEN HOSP,MOL MED CTR,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND

来源：

GENOMICS | 1997年 / 42卷 / 02期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1006/geno.1997.4706

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (Sey(H)) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of Sey(H) and Sey(Dey) homozygotes. (C) 1997 Academic Press.

引用

页码：260 / 267

页数：8

共 27 条

[1] LINKAGE MAPPING AROUND THE RAGGED (RA) AND WASTED (WST) LOCI ON DISTAL MOUSE CHROMOSOME-2 [J].

ABBOTT, C ;

MALAS, S ;

PILZ, A ;

PATE, L ;

ALI, R ;

PETERS, J .

GENOMICS, 1994, 20 (01) :94-98

[2] COLOCALIZATION OF THE HUMAN CD59 GENE TO 11P13 WITH THE MIC11 CELL-SURFACE ANTIGEN [J].

BICKMORE, WA ;

LONGBOTTOM, D ;

OGHENE, K ;

FLETCHER, JM ;

VANHEYNINGEN, V .

GENOMICS, 1993, 17 (01) :129-135

[3]

CATTANACH BM, 1996, MOUSE GENOME, V94, P678

[4]

COWELL JK, 1991, ONCOGENE, V6, P595

[5] A comprehensive genetic map of the mouse genome [J].

Dietrich, WF ;

Miller, J ;

Steen, R ;

Merchant, MA ;

DamronBoles, D ;

Husain, Z ;

Dredge, R ;

Daly, MJ ;

Ingalls, KA ;

OConnor, TJ ;

Evans, CA ;

DeAngelis, MM ;

Levinson, DM ;

Kruglyak, L ;

Goodman, N ;

Copeland, NG ;

Jenkins, NA ;

Hawkins, TL ;

Stein, L ;

Page, DC ;

Lander, ES .

NATURE, 1996, 380 (6570) :149-152

[6]

*EUR BACKCR COLL G, 1994, HUM MOL GENET, V3, P621

[7] ANIRIDIA-ASSOCIATED CYTOGENETIC REARRANGEMENTS SUGGEST THAT A POSITION EFFECT MAY CAUSE THE MUTANT PHENOTYPE [J].

FANTES, J ;

REDEKER, B ;

BREEN, M ;

BOYLE, S ;

BROWN, J ;

FLETCHER, J ;

JONES, S ;

BICKMORE, W ;

FUKUSHIMA, Y ;

MANNENS, M ;

DANES, S ;

VANHEYNINGEN, V ;

HANSON, I .

HUMAN MOLECULAR GENETICS, 1995, 4 (03) :415-422

[8] A HIGH-RESOLUTION INTEGRATED PHYSICAL, CYTOGENETIC, AND GENETIC-MAP OF HUMAN-CHROMOSOME-11 - DISTAL P13 TO PROXIMAL P15.1 [J].

FANTES, JA ;

OGHENE, K ;

BOYLE, S ;

DANES, S ;

FLETCHER, JM ;

BRUFORD, EA ;

WILLIAMSON, K ;

SEAWRIGHT, A ;

SCHEDL, A ;

HANSON, I ;

ZEHETNER, G ;

BHOGAL, R ;

LEHRACH, H ;

GREGORY, S ;

WILLIAMS, J ;

LITTLE, PFR ;

SELLAR, GC ;

HOOVERS, J ;

MANNENS, M ;

WEISSENBACH, J ;

JUNIEN, C ;

VANHEYNINGEN, V ;

BICKMORE, WA .

GENOMICS, 1995, 25 (02) :447-461

[9] HOMOZYGOUS DELETION IN WILMS-TUMORS OF A ZINC-FINGER GENE IDENTIFIED BY CHROMOSOME JUMPING [J].

GESSLER, M ;

POUSTKA, A ;

CAVENEE, W ;

NEVE, RL ;

ORKIN, SH ;

BRUNS, GAP .

NATURE, 1990, 343 (6260) :774-778

[10] A MOUSE MODEL OF THE ANIRIDIA-WILMS TUMOR DELETION SYNDROME [J].

GLASER, T ;

LANE, J ;

HOUSMAN, D .

SCIENCE, 1990, 250 (4982) :823-827

← 1 2 3 →