Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.
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Xq28 中的长程序列分析:RCP/GCP 和 G6PD 位点之间 219.4 kb 高 GC DNA 中的 13 个已知基因和 6 个候选基因。

DOI:
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发表时间:
1996
影响因子:
3.5
通讯作者:
M. D'urso
M. D'urso
中科院分区:
生物学2区
文献类型:
--
作者:
E. Chen;M. Zollo;R. Mazzarella;A. Ciccodicola;C. N. Chen;L. Zuo;C. Heiner;F. Burough;M. Repetto;D. Schlessinger;M. D'urso

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在9个克隆中对包含219 447 bp的DNA进行测序,并以> 99.9%的精确度进行验证。在标准重复序列中,187个Alus占序列的20.6%,但只有27个MER(2.9%)和17个L1片段(1.6%)。这可能是这种高GC(57%)区域的特征。该序列还包括一个11.3 kb的片段,在38 kb的距离处具有99.2%的同一性。该区域80-90%转录,12.5%翻译。13个已知基因及其外显子-内含子边界都至少部分地被GRAIL程序准确预测,另外6个基因也是如此。从着丝粒到端粒,前八个基因的转录方向不同,然后在接下来的五个基因中从着丝粒到端粒,最后六个基因的转录方向相反。19个基因中有18个与CpG岛相关。两个岛是11.3 kb重复单位的精确拷贝,因此可能导致X连锁基因的剂量水平加倍。另一个岛与两个相反方向转录的基因有关。从序列数据中推断出三个基因及其外显子结构。其中之一,以前与HEX 2相关,被证明是一个与己糖激酶无关的不同基因;第二个基因,以前通过EST已知,是丛蛋白,与非洲爪蟾类似物有65.5%的同一性;第三个是液泡H-ATP酶的亚基,被命名为VATPS 1。
DNA comprising 219 447 bp was sequenced in nine cosmids and verified at > 99.9% precision. Of the standard repetitive elements, 187 Alus make up 20.6% of the sequence, but there were only 27 MERs (2.9%) and 17 L1 fragments (1.6%). This may be characteristic of such high GC (57%) regions. The sequence also includes an 11.3 kb tract duplicated with 99.2% identity at a distance of 38 kb. The region is 80-90% transcribed and 12.5% translated. Thirteen known genes and their exon-intron borders are all accurately predicted at least in part by GRAIL programs, as are six additional genes. From centromere to telomere, the orientation of transcription varies among the first eight genes, then runs centromeric to telomeric for the next five, and is in the opposite sense for the last six. Eighteen of the 19 genes are associated with CpG islands. Two islands are exact copies in the 11.3 kb repeat units, and could thus give rise to double dosage levels of an X-linked gene. Another island is associated with two genes transcribed in opposite directions. From the sequence data, three genes and their exon structure are inferred. One of them, previously associated with HEX2, is shown to be a different gene unrelated to hexokinases; a second gene, previously known by an EST, is plexin, from its 65.5% identity with the Xenopus analog; and a third is a subunit of a vacuolar H-ATPase, and is named VATPS1.
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