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首页> 外文期刊>Genomics >Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21.
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Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21.

机译：使用比较物理和序列作图来注释小鼠16号染色体和人21号染色体。

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Distal mouse chromosome 16 (MMU16) shares conserved linkage with human chromosome 21 (HSA21), trisomy for which causes Down syndrome (DS). A 4.5-Mb physical map extending from Cbr1 to Tmprss2 on MMU16 provides a minimal tiling path of P1 artificial chromosomes (PACs) for comparative mapping and genomic sequencing. Thirty-four expressed sequences were positioned on the mouse map, including 19 that were not physically mapped previously. This region of the mouse:human comparative map shows a high degree of evolutionary conservation of gene order and content, which differs only by insertion of one gene (in mouse) and a small inversion involving two adjacent genes. "Low-pass" (2.2x) mouse sequence from a portion of the contig was ordered and oriented along 510 kb of finished HSA21 sequence. In combination with 68 kb of unique PAC end sequence, the comparison provided confirmation of genes predicted by comparative mapping, indicated gene predictions that are likely to be incorrect, and identified three candidate genes in mouse and human that were not observed in the initial HSA21 sequence annotation. This comparative map and sequence derived from it are powerful tools for identifying genes and regulatory regions, information that will in turn provide insights into the genetic mechanisms by which trisomy 21 results in DS. Copyright 2001 Academic Press.
机译：远端小鼠第16号染色体（MMU16）与人类第21号染色体（HSA21）共享保守的连锁关系，后者的三体性导致唐氏综合症（DS）。在MMU16上从Cbr1延伸到Tmprss2的4.5 Mb物理图为比较图谱和基因组测序提供了P1人工染色体（PAC）的最小平铺路径。在小鼠图谱上定位了34个表达的序列，其中包括19个以前未物理定位的序列。小鼠：人类比较图谱的该区域显示了基因顺序和内容的高度进化保守性，这仅因插入一个基因（在小鼠中）和涉及两个相邻基因的小反转而不同。来自重叠群的一部分的“低通”（2.2x）小鼠序列是有序的，并沿着510 kb的完整HSA21序列定向。结合68 kb独特的PAC末端序列，该比较可确认通过比较作图预测的基因，表明可能不正确的基因预测，并鉴定了在小鼠和人类中在最初的HSA21序列中未观察到的三个候选基因。注解。从中得到的这种比较图谱和序列是鉴定基因和调控区的有力工具，这些信息将反过来提供21三体综合征导致DS产生的遗传机制的见解。版权所有2001，学术出版社。

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