Saunders S, Paine-Saunders S, Lander A D
Department of Developmental and Cell Biology and Developmental Biology Center, University of California at Irvine, 92697, USA.
Dev Biol. 1997 Oct 1;190(1):78-93. doi: 10.1006/dbio.1997.8690.
Heparan sulfate is ubiquitous at the cell surface, where it is expressed predominantly on proteoglycans of either the transmembrane syndecan family or the glycosylphosphatidylinositol (GPI)-anchored glypican family, and has been proposed to function as a "coreceptor" for a number of "heparin-binding" growth factors. Although little is known about functional differences between individual members of the glypican gene family, mutations in both the Drosophila gene dally and the human gene for glypican-3 strongly suggest that at least some glypicans do function in cellular growth control and morphogenesis. In particular, deletion of the human glypican-3 gene is responsible for Simpson-Golabi-Behmel syndrome, and its associated pre- and postnatal tissue overgrowth, increased risk of embryonal tumors during early childhood, and numerous visceral and skeletal anomalies. We have identified and characterized, by sequencing of EST clones and products of rapid amplification of cDNA ends (RACE), an mRNA that encodes a 572-amino-acid member of the glypican gene family (glypican-5) that is most related (50% amino acid similarity, 39% identity) to glypican-3. Glypican-5 mRNA is detected as a 3.9- and 4.4-kb transcript in adult and neonatal mouse brain total RNA, and in situ hybridization results localize transcript primarily to restricted regions of the developing central nervous system, limb, and kidney in patterns consistent with a role in the control of cell growth or differentiation. Interestingly, glypican-5 localizes to 13q31-32 of the human genome, deletions of which are associated with human 13q- syndrome, a developmental disorder with a pattern of defects that shows significant overlap with the pattern of glypican-5 expression.
硫酸乙酰肝素在细胞表面广泛存在,主要表达于跨膜蛋白聚糖家族的蛋白聚糖或糖基磷脂酰肌醇(GPI)锚定的磷脂酰肌醇蛋白聚糖家族的蛋白聚糖上,并且有人提出它可作为多种“肝素结合”生长因子的“共受体”。尽管对磷脂酰肌醇蛋白聚糖基因家族各成员之间的功能差异了解甚少,但果蝇基因dally和人类磷脂酰肌醇蛋白聚糖-3基因的突变都强烈表明,至少某些磷脂酰肌醇蛋白聚糖在细胞生长控制和形态发生中发挥作用。特别是,人类磷脂酰肌醇蛋白聚糖-3基因的缺失会导致辛普森-戈拉比-贝梅尔综合征,以及与之相关的产前和产后组织过度生长、幼儿期胚胎肿瘤风险增加,还有许多内脏和骨骼异常。我们通过对EST克隆进行测序以及对cDNA末端快速扩增(RACE)产物进行分析,鉴定并表征了一种mRNA,它编码磷脂酰肌醇蛋白聚糖基因家族的一个572个氨基酸的成员(磷脂酰肌醇蛋白聚糖-5),该成员与磷脂酰肌醇蛋白聚糖-3关系最为密切(氨基酸相似性为50%,同一性为39%)。在成年和新生小鼠脑总RNA中,磷脂酰肌醇蛋白聚糖-5 mRNA被检测为3.9 kb和4.4 kb的转录本,原位杂交结果显示转录本主要定位于发育中的中枢神经系统、肢体和肾脏的特定区域,其模式与在细胞生长或分化控制中的作用一致。有趣的是,磷脂酰肌醇蛋白聚糖-5定位于人类基因组的13q31 - 32区域,该区域的缺失与人类13q - 综合征相关,这是一种发育障碍,其缺陷模式与磷脂酰肌醇蛋白聚糖-5的表达模式有显著重叠。
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