Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution.

Dennehey BK; Gutches DG; McConkey EH; Krauter KS

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Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution.

机译：基因背景的反向，重复和改变与人类18号染色体的进化有关。

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Human chromosome 18 differs from its homologues in the great apes by a pericentric inversion. We have identified a chimpanzee bacterial artificial chromosome that spans a region where a break is likely to have occurred in a human progenitor and have characterized the corresponding regions in both chimpanzees and humans. Interspecies sequence comparisons indicate that the ancestral break occurred between the genes ROCK1 and USP14. In humans, the inversion places ROCK1 near centromeric heterochromatin and USP14 adjacent to highly repetitive subtelomeric repeats. In addition, we provide evidence for a human segmental duplication that may have provided a mechanism for the inversion.

机译：人类染色体18与大猿猴的同系物不同之处在于周心倒置。我们已经确定了一个黑猩猩细菌人工染色体，该染色体跨越了一个可能在人类祖细胞中发生断裂的区域，并且已经确定了黑猩猩和人类的相应区域的特征。种间序列比较表明祖先断裂发生在基因ROCK1和USP14之间。在人类中，倒置会将ROCK1置于着丝粒异染色质附近，而USP14则与高度重复的亚端粒重复序列相邻。此外，我们提供了人类节段重复的证据，可能为倒转提供了机制。

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《Genomics》 |2004年第3期|共9页
作者
Dennehey BK; Gutches DG; McConkey EH; Krauter KS;
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正文语种 eng
中图分类基础医学;
关键词
Human; Chromosomes; Human; Pair 18; Body part inversion; Genes; Evolution; 染色体; 人; 18对; 基因; 进化;

机译：Human;Chromosomes;Human;Pair 18;Body part inversion;Genes;Evolution;染色体;人;18对;基因;进化;

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1. Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution. [J] . Dennehey BK, Gutches DG, McConkey EH, Genomics . 2004,第3期

机译：基因背景的反向，重复和改变与人类18号染色体的进化有关。
2. Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. [J] . Chen CP, Kuo YT, Lin SP, Taiwanese journal of obstetrics and gynecology . 2010,第3期

机译：镶嵌环形染色体18，环形染色体18复制/缺失和二体化18：围产期发现和通过荧光原位杂交和阵列比较基因组杂交的分子细胞遗传学表征。
3. Mosaic Ring Chromosome 18, Ring Chromosome 18 Duplication/Deletion and Disomy 18: Perinatal Findings and Molecular Cytogenetic Characterization by Fluorescence In Situ Hybridization and Array Comparative Genomic Hybridization [J] . Chih-Ping Chen, Yung-Ting Kuo, Shuan-Pei Lin, Taiwanese journal of obstetrics and gynecology . 2010,第3期

机译：镶嵌环形染色体18，环形染色体18复制/删除和二体化18：围产期发现和通过荧光原位杂交和阵列比较基因组杂交的分子细胞遗传学表征
4. The Human Chromosomal Fragile Sites More Often Involved in Constitutional Deletions and Duplications - a Genetic and Statistical Assessment [C] . Dora Prata Gomes, Inês J. Sequeira, Carlos Figueiredo, International Conference of Computational Methods in Sciences and Engineering . 2016

机译：人类染色体脆弱的位点更常见于宪法缺失和重复性 - 遗传和统计评估
5. Mechanisms of insertion and deletion mutations: Rate variation, context specificity, and impact on primate sex chromosome evolution. [D] . Kvikstad, Erika Marit. 2009

机译：插入和缺失突变的机制：速率变化，背景特异性以及对灵长类性染色体进化的影响。
6. Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution. [O] . A Tunnacliffe, L Liu, J K Moore, 1993

机译：重复的KOX锌指基因簇位于人类10号染色体着丝粒的侧面：在灵长类动物进化过程中周围核反转的证据。
7. Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution. [O] . Tunnacliffe, A, Liu, L, Moore, J K, 1993

机译：重复的KOX锌指基因簇位于人类10号染色体着丝粒的侧面：在灵长类动物进化过程中，周围核反转的证据。

Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution.

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