BRCA-1（乳腺癌1號基因）

廣州健侖生物科技有限公司

BRCA1基因定位于17q21，約81kb, 內(nèi)含高達(dá)41.5%的Alu重復(fù)序列和4.8%的其它重復(fù)序列。含有23個(gè)外顯子。BRCA1編碼蛋白的N末端序列含有一環(huán)狀結(jié)構(gòu)域(ringdomain)，能夠與BRCA1相關(guān)環(huán)狀蛋白(BRCA12 associated RING domain protein,BARD1)組成環(huán)2環(huán)異二聚體。2013年認(rèn)為異二聚體作為一種泛素酶發(fā)揮作用，其活性遠(yuǎn)高于單一 的BRCA1或BARD1亞單位。同時(shí)，BARD1是RNA合成酶的一個(gè)組成部分，而BRCA1也大量存在于RNA合成酶的轉(zhuǎn)錄復(fù)合物中。BRCA1的N末端不僅與RNA合成酶相,還與S期和核點(diǎn)(nucleardot)形成有密切關(guān)系。去除BRCA1的N末端將會(huì)導(dǎo)致近98%的BRCA1失去與RNA合成酶的，因此認(rèn)為BRCA1的N末端在調(diào)節(jié)RNA合成酶功能方面起著重要作用。

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【產(chǎn)品介紹】

細(xì)胞定位：細(xì)胞核

克隆號：MS110

同型：IgG2b

適用組織：石蠟/冰凍

陽性對照：B細(xì)胞淋巴瘤/霍奇金氏淋巴瘤/扁桃體

抗原修復(fù)：熱修復(fù)（EDTA）

抗體孵育時(shí)間：30-60min

隨著獲得高等真核生物更多的遺傳信息，人們將會(huì)發(fā)現(xiàn)有更多的酵母基因與高等真核生物基因具有同源性，因此酵母基因組在生物信息學(xué)領(lǐng)域的作用會(huì)顯得更加重要，這同時(shí)也會(huì)反過來促進(jìn)酵母基因組的研究。與酵母相比，高等真核生物具有更豐富的表型，從而彌補(bǔ)了酵母中某些基因突變沒有明顯表型改變的不足。下面將要提到的例子正說明了酵母和人類基因組研究相互促進(jìn)的關(guān)系。人類著色性干皮病是一種常染色體隱性遺傳的皮膚疾病，極易發(fā)展成為皮膚癌。早在1970年Cleaver等就曾報(bào)道，著色性干皮病和紫外線敏感的酵母突變體都與缺乏核苷酸切除修復(fù)途徑（nucleotide excision repair，NER）有關(guān)。1985年，*個(gè)NER途徑相關(guān)基因被測序并證實(shí)是酵母的RAD3基因。1987年，Sung*報(bào)道酵母Rad3p能修復(fù)真核細(xì)胞中DNA解旋酶活力的缺陷。1990年，人們克隆了著色性干皮病相關(guān)基因xPD，發(fā)現(xiàn)它與酵母NER途徑的RAD3基因有*的同源性。隨后發(fā)現(xiàn)所有人類NER的基因都能在酵母中找到對應(yīng)的同源基因。重大突破來源于1993年，發(fā)現(xiàn)人類xPBp和xPDp都是轉(zhuǎn)錄機(jī)制中RNA聚合酶Ⅱ的TFⅡH復(fù)合物的基本組分。于是人們猜測xPBp和xPDp在酵母中的同源基因（RAD3和RAD25）也應(yīng)該具有相似的功能，依此線索很快獲得了滿意的結(jié)果并證實(shí)了當(dāng)初的猜測。
酵母作為模式生物的作用不僅是在生物信息學(xué)方面的作用，酵母也為高等真核生物提供了一個(gè)可以檢測的實(shí)驗(yàn)系統(tǒng)。例如，可利用異源基因與酵母基因的功能互補(bǔ)以確證基因的功能。據(jù)Bassett的不*統(tǒng)計(jì)，到1996年7月15日，至少已發(fā)現(xiàn)了71對人類與酵母的互補(bǔ)基因，這些酵母基因可分為六個(gè)類型：
⑴20個(gè)基因與生物代謝包括生物大分子的合成、呼吸鏈能量代謝以及藥物代謝等有關(guān)；
⑵16個(gè)基因與基因表達(dá)調(diào)控相關(guān)，包括轉(zhuǎn)錄、轉(zhuǎn)錄后加工、翻譯、翻譯后加工和蛋白質(zhì)運(yùn)輸?shù)龋?br />⑶1個(gè)基因是編碼膜運(yùn)輸?shù)鞍椎模?br />⑷7個(gè)基因與DNA合成、修復(fù)有關(guān)；
⑸7個(gè)基因與信號轉(zhuǎn)導(dǎo)有關(guān)；
⑹17個(gè)基因與細(xì)胞周期有關(guān)。
人們發(fā)現(xiàn)有越來越多的人類基因可以補(bǔ)償酵母的突變基因，因而人類與酵母的互補(bǔ)基因的數(shù)量已遠(yuǎn)遠(yuǎn)超過過去的統(tǒng)計(jì)。

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【公司名稱】 廣州健侖生物科技有限公司
【市場部】    楊永漢

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【騰訊  】 
【公司地址】 廣州清華科技園創(chuàng)新基地番禺石樓鎮(zhèn)創(chuàng)啟路63號二期2幢101-103室

As more genetic information is available from higher eukaryotes, one will find that more yeast genes share homologies with higher eukaryotic genes, and the role of the yeast genome in bioinformatics will become even more important In turn, it will also promote the yeast genome research. Higher eukaryotes have a richer phenotype than yeasts, making up for the lack of significant phenotypic changes in some of the yeast gene mutations. The examples to be mentioned below illustrate the interplay between yeast and human genomic research. Human color dry skin disease is an autosomal recessive skin disease, easily developed into skin cancer. As early as 1970, Cleaver et al. Reported that both xeroderma pigmentosum and ultraviolet-sensitive yeast mutants are associated with a lack of nucleotide excision repair (NER). In 1985, the first NER pathway related gene was sequenced and verified to be the yeast RAD3 gene. In 1987, Sung first reported the defect that yeast Rad3p can repair DNA helicase activity in eukaryotic cells. In 1990, cloned human xDD gene related to dry skin disease and found that it has very high homology with RAD3 gene of yeast NER pathway. It was subsequently found that all human NER genes can find corresponding homologous genes in yeast. A major breakthrough came in 1993 and found that both human xPBp and xPDp are essential components of the TFIIH complex of RNA polymerase II in the transcriptional machinery. So people speculated that the xPBp and xPDp homologs in yeast (RAD3 and RAD25) should also have similar functions, so clues to get satisfactory results quickly and confirmed the original guess.
The role of yeast as a model organism is not only a function of bioinformatics, but yeast also provides a testable system for higher eukaryotes. For example, heterologous genes can be utilized to complement the function of the yeast gene to confirm the function of the gene. According to Bassett's incomplete statistics, as of July 15, 1996, at least 71 pairs of human and yeast complementary genes have been found. These yeast genes can be divided into six types:
⑴20 genes and biological metabolism, including the synthesis of biological macromolecules, respiratory chain energy metabolism and drug metabolism;
⑵ 16 genes related to gene expression and regulation, including transcription, post-transcriptional processing, translation, post-translational processing and protein trafficking;
⑶ 1 gene encoding membrane transport protein;
⑷ 7 genes and DNA synthesis, repair related;
⑸ 7 genes and signal transduction;
⑹ 17 genes related to the cell cycle.
It has been found that more and more human genes can compensate for the mutant genes in yeast, thus the number of complementary genes between human and yeast has far exceeded the statistics of the past.