Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.
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逼近 3q23 上的 BPES 基因：45 kb 粘粒内重新易位 t(3;4)(q23;p15.2) 断点的定位以及三个候选基因 RBP1、RBP2 和 beta 的定位
作者：
E. Baere;N. Roy;F. Speleman;Y. Fukushima;A. Paepe;L. Messiaen
BPES是一种遗传性疾病，表现为小睑裂、眼睑下垂、内眦赘皮和内眦赘皮。BPES I型与女性不孕症有关，而II型没有其他症状。目前，尚不清楚BPES I型是由单个基因缺陷引起还是由相邻基因综合征引起。先前的细胞遗传学和连锁分析已经将BPES位点分配到3q 23，在D3 S1615和D3 S1316之间的5-cM间隔内。在这份报告中，我们描述了3q 23断裂点的分子和物理特性的BPES患者与t（3;4）（q23;p15.2）易位。将位于D3 S1615-D3 S1316区间周围和区间内的8个YAC相对于3q 23断裂点作图;鉴定了跨越3q 23断裂点的5个YAC。在YAC图谱上定位了13个STS和EST。随后将跨越断裂点的2个YAC与人RPCI 1 PAC文库和人染色体3 LLNL粘粒文库杂交，分别鉴定出12个PAC和50个粘粒，从而可以构建详细的PAC和粘粒物理图谱。在该物理图谱上获得了3个候选基因，细胞视黄醇结合蛋白1和2（RBP 1，RBP 2）和外被体β '亚基（β'-COP）的精确位置-端粒到断裂点。此外，构建了包含断裂点的PAC和粘粒重叠群。PAC 169-C 10和粘粒11-L 10穿过断裂点分别具有110和45 kb的大小。在这些克隆和重叠群的其余部分中分离编码序列将极大地促进进一步努力定位克隆涉及BPES的基因。
BPES is a genetic disorder presenting with blepharophimosis, ptosis of the eyelids, epicanthus inversus, and telecanthus. BPES type I is associated with female infertility, whereas type II presents without additional symptoms. Hitherto, it remains unknown whether BPES type I results from a defect in a single gene or from a contiguous gene syndrome. Previous cytogenetic and linkage analyses have assigned a BPES locus to 3q23, in a 5-cM interval between D3S1615 and D3S1316. In this report, we describe the molecular and physical characterization of the 3q23 breakpoint in a BPES patient with a t(3;4)(q23;p15.2) translocation. Eight YACs located around and within the D3S1615-D3S1316 interval were mapped relative to the 3q23 breakpoint; 5 YACs spanning the 3q23 breakpoint were identified. Thirteen STSs and ESTs were localized on the YAC map. Subsequent hybridization of 2 YACs spanning the breakpoint to the Human RPCI1 PAC Library and the Human Chromosome 3 LLNL Cosmid Library resulted in the identification of 12 PACs and 50 cosmids respectively, allowing the construction of a detailed PAC and cosmid physical map. A refined position-telomeric to the breakpoint-of 3 candidate genes, cellular retinol-binding proteins 1 and 2 (RBP1, RBP2) and the coatomer beta' subunit (beta'-COP), was obtained on this physical map. Furthermore, a PAC and cosmid contig encompassing the breakpoint was constructed. PAC 169-C 10 and cosmid 11-L 10 crossing the breakpoint have sizes of 110 and 45 kb, respectively. The isolation of coding sequences in these clones and in the rest of the contig will greatly facilitate further efforts toward positional cloning of the gene(s) involved in BPES.
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DOI：
10.1073/pnas.87.3.1213
发表时间：
1990-02-01
影响因子：
11.1
作者：
GREEN, ED;OLSON, MV
通讯作者：
OLSON, MV
影响因子：
3.5
作者：
Kent W. Small;M. Stalvey;Lucretia Fisher;L. Mullen;C. Dickel;K. A. Beadles;R. Reimer;A. Lessner;K. Lewis;M. Pericak-Vance
通讯作者：
Kent W. Small;M. Stalvey;Lucretia Fisher;L. Mullen;C. Dickel;K. A. Beadles;R. Reimer;A. Lessner;K. Lewis;M. Pericak-Vance
DOI：
--
发表时间：
1987
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Demmer,LA;Birkenmeier,EH;Sweetser,DA;Levin,MS;Zollman,S;Sparkes,RS;Mohandas,T;Lusis,AJ;Gordon,JI
通讯作者：
Gordon,JI
富含单个人类染色体序列的质粒文库的构建和表征。
影响因子：
4.4
作者：
Collins,C;Kuo,WL;Segraves,R;Fuscoe,J;Pinkel,D;Gray,JW
通讯作者：
Gray,JW