Functional and comparative genomic analysis of the piebald deletion region of mouse chromosome 14.

Functional and comparative genomic analysis of the piebald deletion region of mouse chromosome 14.
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小鼠 14 号染色体花斑缺失区域的功能和比较基因组分析。

DOI:
10.1006/geno.2002.6818
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发表时间:
2002
期刊:
影响因子:
4.4
通讯作者:
O'Brien,TimothyP
O'Brien,TimothyP
中科院分区:
生物学3区
文献类型:
--
作者:
Peterson,KevinA;King,BenjaminL;Hagge-Greenberg,Aaron;Roix,JeffreyJ;Bult,CarolJ;O'Brien,TimothyP

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几个发育重要的基因组区域的地图内的花斑缺失复合体远端小鼠染色体14。我们结合了计算基因预测和比较序列分析,以确定候选基因的表型呈现的纯合缺失小鼠的花斑区域的一个4.3 Mb的片段的特征。因此,我们已经订购了13个缺失断点,将该序列与来自细菌人工染色体(BAC)物理图谱的标记整合,并在该区域鉴定了16个已知或预测的基因和>1500个保守序列元件(CSE)。已确定的候选基因包括Phr 1(以前的Pam)和Spry 2,它们是果蝇发育所需基因的小鼠同源物。基因内容、顺序和位置在小鼠14号染色体和人13号染色体的正向区之间高度保守。我们的研究结合了计算基因预测与遗传和比较基因组分析,提供了关于这个定义的染色体区域的功能组成和组织的见解。
Several developmentally important genomic regions map within the piebald deletion complex on distal mouse chromosome 14. We have combined computational gene prediction and comparative sequence analysis to characterize an ∼4.3-Mb segment of the piebald region to identify candidate genes for the phenotypes presented by homozygous deletion mice. As a result we have ordered 13 deletion breakpoints, integrated the sequence with markers from a bacterial artificial chromosome (BAC) physical map, and identified 16 known or predicted genes and >1500 conserved sequence elements (CSEs) across the region. The candidate genes identified include Phr1 (formerly Pam) and Spry2, which are mouse homologs of genes required for development in Drosophila melanogaster. Gene content, order, and position are highly conserved between mouse chromosome 14 and the orthologous region of human chromosome 13. Our studies combining computational gene prediction with genetic and comparative genomic analyses provide insight regarding the functional composition and organization of this defined chromosomal region.
小鼠14号染色体。
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