Transcription mapping of the 5q-syndrome critical region:: Cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs
Transcription mapping of the 5q-syndrome critical region:: Cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs
复制标题
DOI：
10.1006/geno.2000.6193
复制
发表时间：
2000-05-15
期刊：
影响因子：
4.4
通讯作者：
Wainscoat, JS
中科院分区：
文献类型：
--
作者：
Boultwood, J;Fidler, C;Wainscoat, JS
5q-综合征是以5q缺失[del(5q)]为唯一核型异常的骨髓增生异常综合征。我们正在使用表达序列标签（EST）资源作为我们鉴定5q-综合征新候选基因的主要方法。从国家生物技术信息中心的人类基因图谱中鉴定出17个est，它们与任何已知基因没有显著的同源性，并被分配在DNA标记D5S413和D5S487之间，位于5q-综合征的关键区域5q31-q32的两侧。通过基因剂量分析，17个cdna中有11个（65%）映射到5q-综合征的关键区域，然后通过PCR筛选亚定位到包含关键区域的YAC序列。11个cDNA克隆中有8个与已知基因无明显同源性。8个cDNA克隆均在人骨髓中表达。获得了2个新基因C5orf3和C5orf4的完整编码序列。C5orf3的2.6 kb转录本编码一个推定的505个氨基酸的蛋白，并包含一个ATP/ gtp结合位点基序a （P环），这表明该新基因编码ATP或gtp结合蛋白。新发现的基因C5orf4有一个3.1 kb的转录本，编码一个144个氨基酸的蛋白。我们描述了2个新的人类基因的克隆，以及另外6个新的cDNA克隆的测序，表达模式和定位到5q-综合征的关键区域。基因组定位和表达模式表明，本报告中描述的8种新型cdna代表了5q综合征的潜在候选基因。(C) 2000年学术出版社。
The 5q- syndrome is a myelodysplastic syndrome with the 5q deletion [del(5q)] as the sole karyotypic abnormality. We are using the expressed sequence tag (EST) resource as our primary approach to identifying novel candidate genes for the 5q- syndrome. Seventeen ESTs were identified from the Human Gene Map at the National Center for Biotechnology Information that had no significant homology to any known genes and were assigned between DNA markers D5S413 and D5S487, flanking the critical region of the 5q- syndrome at 5q31-q32. Eleven of the 17 cDNAs from which the ESTs were derived (65%) were shown to map to the critical region of the 5q- syndrome by gene dosage analysis and were then sublocalized by PCR screening to a YAC contig encompassing the critical region. Eight of the 11 cDNA clones, upon full sequencing, had no significant homology to any known genes. Each of the 8 cDNA clones was shown to be expressed in human bone marrow. The complete coding sequence was obtained for 2 of the novel genes, termed C5orf3 and C5orf4. The 2.6-kb transcript of C5orf3 encodes a putative 505-amino-acid protein and contains an ATP/ GTP-binding site motif A (P loop), suggesting that this novel gene encodes an ATP- or a GTP-binding protein. The novel gene C5orf4 has a transcript of 3.1 kb, encoding a putative 144-amino-acid protein. We describe the cloning of 2 novel human genes and the sequencing, expression patterns, and mapping to the critical region of the 5q- syndrome of a further 6 novel cDNA clones. Genomic localization and expression patterns Would suggest that the 8 novel cDNAs described in this report represent potential candidate genes for the 5q-syndrome. (C) 2000 Academic Press.