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重排对间期细胞核中染色体功能和位置以及人类遗传疾病的影响。

Impact of rearrangements on function and position of chromosomes in the interphase nucleus and on human genetic disorders.

作者信息

Qumsiyeh M B

机构信息

Duke University Medical Center, Cytogenetics Laboratory, Durham, NC 27710, USA.

出版信息

Chromosome Res. 1995 Dec;3(8):455-65. doi: 10.1007/BF00713959.

DOI:10.1007/BF00713959
PMID:8581297
Abstract

A synthesis of numerous published data and my own observations reveal that chromatin structure in interphase is functional, dynamic and complex. I hypothesize that: (1) chromosome regions organize nuclear structures and thus their own environment (address themselves in sites and condensation patterns most appropriate for their functional state in the particular cell); (2) chromosome rearrangement could alter nuclear architecture and thus function; and (3) these ideas can explain the contribution of chromosome rearrangements, even in a balanced form, to human pathologic conditions.

摘要

大量已发表数据与我自己的观察结果综合表明,间期染色质结构具有功能性、动态性且复杂。我推测:(1)染色体区域组织核结构,进而组织其自身所处环境(以最适合其在特定细胞中功能状态的位点和凝聚模式定位自身);(2)染色体重排可改变核结构进而影响其功能;(3)这些观点能够解释染色体重排,即便以平衡形式,对人类病理状况的影响。

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Chromosome Res. 1995 Dec;3(8):455-65. doi: 10.1007/BF00713959.
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Hereditary colorectal-cancer (review).遗传性结直肠癌(综述)
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Interchromosomal effects on crossing over in Drosophila.果蝇中染色体间对交换的影响。
Cold Spring Harb Symp Quant Biol. 1951;16:175-97. doi: 10.1101/sqb.1951.016.01.015.
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AUTOSOMAL DISORDERS.常染色体疾病
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Chromosome pairing, crossing over, and segregation in meiosis in Drosophila melanogaster females.黑腹果蝇雌性减数分裂中的染色体配对、交叉和分离
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Regulating genes by packaging domains: bits of heterochromatin in euchromatin?通过包装结构域调控基因:常染色质中的异染色质片段?
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Cell cycle-dependent distribution of telomeres, centromeres, and chromosome-specific subsatellite domains in the interphase nucleus of mouse lymphocytes.小鼠淋巴细胞间期核中端粒、着丝粒和染色体特异性亚卫星结构域的细胞周期依赖性分布。
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