人类X染色体失活中心区域Xq13的脉冲场图谱。

Pulsed-field map of Xq13 in the region of the human X inactivation center.

作者信息

Lafrenière R G, Willard H F

机构信息

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106.

出版信息

Genomics. 1993 Aug;17(2):502-6. doi: 10.1006/geno.1993.1356.

DOI:10.1006/geno.1993.1356

PMID:8406503

Abstract

We have used human/mouse hybrid cell lines to derive a pulsed-field map of the Xq13 region of the human X chromosome, in the vicinity of the X inactivation center (XIC). We have mapped nine loci within two separate clusters (I and II). Cluster I contains three loci (DXS227, XIST, and DXS128) linked within 1700 kb. This cluster also includes the breakpoint of a translocated X;14 chromosome used to define the proximal border of the XIC region. Cluster II covers an additional 1800 kb and physically links six loci (DXS56, DXS171, DXS325, DXS347, DXS356, and DXS441) located between the XIC and the genes for Menkes disease (MNK) and PGK1. Maps of cluster I loci derived from active (Xa) or inactive (Xi) X chromosomes differed, presumably due to methylation differences between the Xa and Xi. This map provides a basis for examining the organization of the Xq13.2-q13.3 region, in and around the XIC, and will assist in the further cloning of expressed sequences from this region.

摘要

我们利用人/鼠杂交细胞系绘制了人类X染色体Xq13区域（靠近X染色体失活中心XIC）的脉冲场图谱。我们在两个独立的基因座簇（I和II）中定位了9个基因座。簇I包含三个在1700 kb范围内连锁的基因座（DXS227、XIST和DXS128）。该簇还包括一条用于定义XIC区域近端边界的易位X;14染色体的断点。簇II覆盖另外1800 kb，并将位于XIC与门克斯病（MNK）和磷酸甘油酸激酶1（PGK1）基因之间的六个基因座（DXS56、DXS171、DXS325、DXS347、DXS356和DXS441）物理连接起来。源自活性（Xa）或失活（Xi）X染色体的簇I基因座图谱有所不同，推测是由于Xa和Xi之间的甲基化差异所致。该图谱为研究XIC及其周围Xq13.2 - q13.3区域的组织提供了基础，并将有助于进一步克隆该区域的表达序列。