Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes.
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes.
复制标题
嗅觉受体基因家族的成员包含在人类染色体末端附近以多态性复制的大块 DNA 中。
DOI：
10.1093/hmg/7.1.13
复制
发表时间：
1998
影响因子：
3.5
通讯作者：
vandenEngh,G
中科院分区：
文献类型：
--
作者：
Trask,BJ;Friedman,C;Martin-Gallardo,A;Rowen,L;Akinbami,C;Blankenship,J;Collins,C;Giorgi,D;Iadonato,S;Johnson,F;Kuo,WL;Massa,H;Morrish,T;Naylor,S;Nguyen,OT;Rouquier,S;Smith,T;Wong,DJ;Youngblom,J;vandenEngh,G
我们已经在一大段DNA中发现了嗅觉受体(OR)基因家族的三个新成员，这段DNA在许多人类端粒附近复制，具有很高的相似性。在来自不同人群的45名无关人群中，该片段分别存在于3q、15q和19p。在其他11个亚端粒位置上，其他拷贝呈多态分布。阻塞出现在某些位置的频率因人口而异。虽然人类携带7到11个含有OR的区块，但它主要位于黑猩猩和大猩猩的单一位置，与人类基因组中的任何位置都不是同源的。观察到含有OR的片段两侧的序列被复制在比OR区块本身更大且不同的染色体上，这表明该片段是更大、更复杂的亚端粒复制拼接的一部分。人口分析和结构结果表明，在进化过程中塑造了这些地区的过程类型。从ITS序列来看，这个重复区块中的一个OR基因似乎具有潜在的功能。我们的发现提出了这样一种可能性，即OR家族的功能多样性部分是通过人类端粒附近DNA的复制和染色体间重排而产生的。
We have identified three new members of the olfactory receptor (OR) gene family within a large segment of DNA that is duplicated with high similarity near many human telomeres. This segment is present at 3q, 15q, and 19p in each of 45 unrelated humans sampled from various populations. Additional copies are present polymorphically at 11 other subtelomeric locations. The frequency with which the block is present at some locations varies among populations. While humans carry seven to 11 copies of the OR-containing block, it is located in chimpanzee and gorilla predominantly at a single site, which is not orthologous to any of the locations in the human genome. The observation that sequences flanking the OR-containing segment are duplicated on larger and different sets of chromosomes than the OR block itself demonstrates that the segment is part of a much larger, complex patchwork of subtelomeric duplications. The population analyses and structural results suggest the types of processes that have shaped these regions during evolution. From its sequence, one of the OR genes in this duplicated block appears to be potentially functional. Our findings raise the possibility that functional diversity in the OR family is generated in part through duplications and inter-chromosomal rearrangements of the DNA near human telomeres.