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位于人类6号染色体p21.3上的三个编码锌指蛋白的基因:包含保守SCAN盒结构域的Kruppel基因家族一个新亚类的成员。

Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain.

作者信息

Lee P L, Gelbart T, West C, Adams M, Blackstone R, Beutler E

机构信息

Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA.

出版信息

Genomics. 1997 Jul 15;43(2):191-201. doi: 10.1006/geno.1997.4806.

Abstract

Five genes encoding zinc finger proteins of the Cys2His2 (or Krüppel) family were identified by direct cDNA hybridization to YACs 753H12 and 638D7, which encompass a region of human chromosome 6p21.3 extending from just centromeric of the microsatellite marker D6S306 to telomeric of D6S1260. The genes span a distance of approximately 1750 kb. The complete cDNA sequence, genomic structure, and tissue distribution of three of the zinc finger proteins, LD65/ZNF165, ZNF192 (previously called LD5-1), and ZNF193, are described. The three zinc finger proteins do not contain either Krüppel-associated box (KRAB) A or KRAB B domain, present in about one-third of all Krüppel-type zinc finger proteins (E. J. Bellefroid et al., 1991, Proc. Natl. Acad. Sci. USA 88: 3608-3612). The three zinc finger proteins do contain the conserved SCAN box domain (A. J. Williams et al., 1995, J. Biol. Chem. 270: 22143-22152). SCAN boxes are found in eight other genes in the GenBank database, five of which are also in the Kruppel family of zinc finger proteins lacking KRAB A and B domains and thereby define a new subclass of zinc finger proteins. In addition, three polymorphisms were identified in ZNF192, one of the zinc finger proteins. One of the three polymorphisms, Pro163Leu, is the second proline in a proline cluster (PEPP) in a region separating the SCAN box from the zinc finger motifs.

摘要

通过将cDNA直接与YACs 753H12和638D7杂交,鉴定出了5个编码Cys2His2(或Krüppel)家族锌指蛋白的基因,YACs 753H12和638D7覆盖了人类6号染色体p21.3区域,该区域从微卫星标记D6S306的着丝粒侧一直延伸到D6S1260的端粒侧。这些基因跨度约为1750 kb。本文描述了三种锌指蛋白LD65/ZNF165、ZNF192(以前称为LD5-1)和ZNF193的完整cDNA序列、基因组结构及组织分布。这三种锌指蛋白均不包含Krüppel相关框(KRAB)A或KRAB B结构域,约三分之一的Krüppel型锌指蛋白中存在该结构域(E. J. Bellefroid等人,1991年,《美国国家科学院院刊》88: 3608 - 3612)。这三种锌指蛋白均含有保守的SCAN框结构域(A. J. Williams等人,1995年,《生物化学杂志》270: 22143 - 22152)。在GenBank数据库中的其他8个基因中也发现了SCAN框,其中5个基因也属于缺乏KRAB A和B结构域的锌指蛋白Krüppel家族,从而定义了一个新的锌指蛋白亚类。此外,在其中一种锌指蛋白ZNF192中鉴定出了三种多态性。三种多态性之一,Pro163Leu,是在将SCAN框与锌指基序分隔开的区域中的脯氨酸簇(PEPP)中的第二个脯氨酸。

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