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

机译：小鼠14号染色体花斑缺失区的功能和比较基因组分析

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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 approximately 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.
机译：远端小鼠染色体14上的花斑缺失复合物中的几个具有发展意义的重要基因组区域图老鼠。结果，我们订购了13个缺失断点，将序列与细菌人工染色体（BAC）物理图谱中的标记整合在一起，并在该区域内鉴定出16个已知或预测的基因以及> 1500个保守序列元素（CSE）。鉴定出的候选基因包括Phr1（以前称为Pam）和Spry2，它们是果蝇中发育所需基因的小鼠同源物。基因含量，顺序和位置在小鼠第14号染色体与人类13号染色体的直系同源区域之间高度保守。我们的研究将计算基因预测与遗传和比较基因组分析相结合，提供了有关此定义的染色体区域的功能组成和组织的见解。

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