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人类1号染色体臂内倒位区域同源序列的直接证据。

Direct evidence for homologous sequences on the paracentric regions of human chromosome 1.

作者信息

Hardas B D, Zhang J, Trent J M, Elder J T

机构信息

Department of Dermatology, University of Michigan, Ann Arbor 48109-0672.

出版信息

Genomics. 1994 May 15;21(2):359-63. doi: 10.1006/geno.1994.1277.

DOI:10.1006/geno.1994.1277
PMID:8088830
Abstract

Calcyclin is a member of the S100 family of proteins, many of which are encoded by genes that have been localized to the proximal long arm of human chromosome 1 (bands q21-q22). A 450-kb yeast artificial chromosome clone containing the human calcyclin gene was identified by PCR screening and used as a probe for fluorescence in situ hybridization (FISH). Along with the expected hybridization to 1q21, simultaneous, specific hybridization to the centromeric region of the short arm of chromosome 1 was also observed. An identical pattern of hybridization was observed when microdissected 1q21 DNA sequences were used as a probe for FISH, confirming the presence of homologous sequences flanking both sides of the centromere of human chromosome 1. These results are consistent with a model in which human chromosome 1 arose by insertion of the centromere and heterochromatin into an ancestral chromosome containing chromosome-specific repetitive sequences.

摘要

钙结合蛋白是S100蛋白家族的成员之一,该家族中的许多蛋白由定位于人类染色体1长臂近端(q21-q22带)的基因编码。通过PCR筛选鉴定出一个包含人类钙结合蛋白基因的450kb酵母人工染色体克隆,并将其用作荧光原位杂交(FISH)的探针。除了预期与1q21杂交外,还观察到与1号染色体短臂着丝粒区域同时发生特异性杂交。当使用显微切割的1q21 DNA序列作为FISH探针时,观察到相同的杂交模式,证实了人类染色体1着丝粒两侧存在同源序列。这些结果与一个模型一致,即人类染色体1是通过将着丝粒和异染色质插入到一个包含染色体特异性重复序列的祖先染色体中而产生的。

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