1q21的高分辨率酵母人工染色体片段图谱

High-resolution YAC fragmentation map of 1q21.

作者信息

Lioumi M, Olavesen M G, Nizetic D, Ragoussis J

机构信息

Division of Medical and Molecular Genetics, United Medical School of Guy's and St. Thomas's Hospital (UMDS), London, United Kingdom.

出版信息

Genomics. 1998 Apr 15;49(2):200-8. doi: 10.1006/geno.1998.5234.

DOI:10.1006/geno.1998.5234

PMID:9598307

Abstract

Chromosomal band 1q21 contains a number of genes, constituting the Epidermal differentiation complex (EDC), most of which are involved in the process of terminal differentiation of the human epidermis and implicated in several disorders of keratinization and cancer. The physical map of 1q21 has been refined by generating 400 YAC derivatives. These products have allowed us to localize EDC genes and additional ESTs precisely. The transcriptional map of the region has been extended by positioning 20 ESTs reported to map between D1S442 and D1S305. Eight of the ESTs are localized in two distinct clusters, confirmed by isolating PACs and chromosome 1-specific cosmids. Two of the ESTs correspond to the genes for YL1 and selenium-binding protein, both of which have potential tumor suppressor activity. Through the use of fragmented YACs and bacterial clones, the order of markers and ESTs in the region has been established as follows: cen-A002O32-Bda44g03-Cda10d12-Bdab5d06, H60056, A005K39-D1S442-WI5663-WI7969-Cx40-Cda0g e12-Cda0kh05-A002D26- A008S07-Cda0ff08-D1S498-S100A10-WI7815( THH)-WI7217(FLG)-D1S1664-INV-SPRR2A- LOR-A001X21-D1S305-tel.

摘要

染色体带1q21包含许多基因，构成了表皮分化复合体（EDC），其中大多数基因参与人类表皮的终末分化过程，并与多种角化异常和癌症相关。通过产生400个酵母人工染色体（YAC）衍生物，1q21的物理图谱得到了完善。这些产物使我们能够精确地定位EDC基因和其他的表达序列标签（EST）。通过定位据报道定位于D1S442和D1S305之间的20个EST，该区域的转录图谱得到了扩展。其中8个EST定位于两个不同的簇中，通过分离细菌人工染色体（PAC）和1号染色体特异性黏粒得以证实。其中两个EST对应于YL1和硒结合蛋白的基因，二者均具有潜在的肿瘤抑制活性。通过使用片段化的YAC和细菌克隆，该区域内标记和EST的顺序已确定如下：着丝粒-A002O32-Bda44g03-Cda10d12-Bdab5d06，H60056，A005K39-D1S442-WI5663-WI7969-Cx40-Cda0ge12-Cda0kh05-A002D26-A008S07-Cda0ff08-D1S498-S100A10-WI7815（THH）-WI7217（FLG）-D1S1664-INV-SPRR2A-LOR-A001X21-D1S305-端粒。