High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22

被引：29

作者：

Brouillard, P

Olsen, BR

Vikkula, M

机构：

[1] Univ Catholique Louvain, Christian Duve Inst Cellular Pathol, Lab Human Mol Genet, B-1200 Brussels, Belgium

[2] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02215 USA

[3] Harvard Univ, Sch Dent Med, Harvard Forsyth Dept Oral Biol, Boston, MA 02215 USA

来源：

GENOMICS | 2000年 / 67卷 / 01期

关键词：

D O I：

10.1006/geno.2000.6232

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：

Vascular anomalies are congenital lesions that usually occur sporadically, but can be inherited. Previously, we have described that venous malformations, localized bluish-purple skin lesions, are caused by an activating mutation in the TIE2/TEK receptor. Moreover, we mapped another locus to chromosome 1p21-p22, for venous malformations with glomus cells (VMGLOM). Here Foe report a physical map, based on 18 overlapping YAC clones, spanning this 5-Mb VMGLOM locus, from marker GATA63C06 to DIS2664. In addition, we report a sequence-ready PAC map of 46 clones covering 1.48 Mb within the YAC contig, a region to which Foe have restricted VMGLOM. We describe 21 new STSs and nine novel CA repeats, seven of which are polymorphic. These data will enable positional cloning of genes for diseases mapped to this locus, including the VMGLOM gene, likely a currently unknown regulator of vasculogenesis and/or angiogenesis. (C) 2000 Academic Press.

引用

页码：96 / 101

页数：6

共 10 条

[1] A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [J].

Allikmets, R ;

Singh, N ;

Sun, H ;

Shroyer, NE ;

Hutchinson, A ;

Chidambaram, A ;

Gerrard, B ;

Baird, L ;

Stauffer, D ;

Peiffer, A ;

Rattner, A ;

Smallwood, P ;

Li, YX ;

Anderson, KL ;

Lewis, RA ;

Nathans, J ;

Leppert, M ;

Dean, M ;

Lupski, JR .

NATURE GENETICS, 1997, 15 (03) :236-246

[2] A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22 [J].

Boon, LM ;

Brouillard, P ;

Irrthum, A ;

Karttunen, L ;

Warman, ML ;

Rudolph, R ;

Mulliken, JB ;

Olsen, BR ;

Vikkula, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :125-133

[3] ASSIGNMENT OF A LOCUS FOR DOMINANTLY INHERITED VENOUS MALFORMATIONS TO CHROMOSOME 9P [J].

BOON, LM ;

MULLIKEN, JB ;

VIKKULA, M ;

WATKINS, H ;

SEIDMAN, J ;

OLSEN, BR ;

WARMAN, ML .

HUMAN MOLECULAR GENETICS, 1994, 3 (09) :1583-1587

[4] Allelic and locus heterogeneity in inherited venous malformations [J].

Calvert, JT ;

Riney, TJ ;

Kontos, CD ;

Cha, EH ;

Prieto, VG ;

Shea, CR ;

Berg, JN ;

Nevin, NC ;

Simpson, SA ;

Pasyk, KA ;

Speer, MC ;

Peters, KG ;

Marchuk, DA .

HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1279-1289

[5]

Ioannou P.A., 1996, CURRENT PROTOCOLS HU

[6]

IRRTHUM A, UNPUB LINKAGE DISEQU

[7] Cloning of the human Gfi-1 gene and its mapping to chromosome region 1p22 [J].

Roberts, T ;

Cowell, JK .

ONCOGENE, 1997, 14 (08) :1003-1005

[8] NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma [J].

Roberts, T ;

Chernova, O ;

Cowell, JK .

HUMAN MOLECULAR GENETICS, 1998, 7 (07) :1169-1178

[9] Molecular basis of vascular anomalies [J].

Vikkula, M ;

Boon, LM ;

Mulliken, JB ;

Olsen, BR .

TRENDS IN CARDIOVASCULAR MEDICINE, 1998, 8 (07) :281-292

[10] Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2 [J].

Vikkula, M ;

Boon, LM ;

Carraway, KL ;

Calvert, JT ;

Diamonti, AJ ;

Goumnerov, B ;

Pasyk, KA ;

Marchuk, DA ;

Warman, ML ;

Cantley, LC ;

Mulliken, JB ;

Olsen, BR .

CELL, 1996, 87 (07) :1181-1190

← 1 →