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首页> 外文期刊>Genomics >Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
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Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

机译：TULIP1（GARNL1）的克隆，基因组结构和表达谱，Tulip1（14q13相关的神经表型的大脑表达候选基因）及其鼠类同源物。

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Previously, we have described the clinical and molecular characterization of a de novo 14q13.1-q21.1 microdeletion, less than 3.5 Mb in size, in a patient with severe microcephaly, psychomotor retardation, and other clinical anomalies. Here we report the characterization of the genomic structure of the human tuberin-like protein gene 1 (TULIP1; approved gene symbol GARNL1), a CpG-island-associated, brain-expressed candidate gene for the neurological findings in our patient, and its murine homologue. The human TULIP1 gene was mapped to chromosome band 14q13.2 by fluorescence in situ hybridization of BAC clone RP11-355C3 (GenBank Accession No. ), containing the 3' region of the gene. TULIP1 spans about 271 kb of human genomic DNA and is divided into 41 exons. An untranscribed, processed pseudogene of TULIP1 was found on human chromosome band 9q31.1. The active locus TULIP1, encoding a predicted protein of 2036 amino acids, is expressed ubiquitously in pre- and postnatal human tissues. The murine homologue Tulip1 spans about 220 kb of mouse genomic DNA and is also divided into 41 exons, encoding a predicted protein of 2035 amino acids. No pseudogene could be found in the available mouse sequence data. Several splicing variants were found. Considering the location, expression profile, and predicted function, TULIP1 is a strong candidate for several neurological features seen in 14q deletion patients. Additionally we searched for mutations in the coding region of TULIP1 in subjects from a family with idiopathic basal ganglia calcification (IBGC; Fahr disease), previously linked to chromosome 14q. We identified two novel SNPs in the intron-exon boundaries; however, they did not segregate only with affected subjects in the predicted model of an autosomal dominant disease such as IBGC.
机译：以前，我们已经描述了患有严重小头畸形，精神运动发育迟缓和其他临床异常的患者中，新生的14q13.1-q21.1微缺失的临床和分子特征，其大小小于3.5 Mb。在这里，我们报告人类结核菌素样蛋白基因1（TULIP1;批准的基因符号GARNL1）的基因组结构的表征，这是一种与CpG岛相关的，大脑表达的患者神经病学发现的候选基因，其小鼠同源物。通过包含该基因3'区的BAC克隆RP11-355C3（GenBank登录号）的荧光原位杂交，将人TULIP1基因定位到14q13.2染色体带。 TULIP1跨越约271 kb的人类基因组DNA，分为41个外显子。在人类染色体9q31.1上发现了TULIP1的未转录，经过处理的假基因。编码2036个氨基酸的预测蛋白的活动基因座TULIP1在出生前和出生后的人体组织中普遍表达。鼠类同源物Tulip1跨越约220 kb的小鼠基因组DNA，也被分为41个外显子，编码2035个氨基酸的预测蛋白。在可用的小鼠序列数据中找不到伪基因。发现了几种剪接变体。考虑到位置，表达谱和预测功能，TULIP1是14q缺失患者所见几种神经功能的强力候选者。此外，我们在患有特发性基底神经节钙化（IBGC; Fahr病）的家庭中的受试者中搜索了TULIP1编码区的突变，该家族先前与14q号染色体有关。我们在内含子-外显子边界中鉴定了两个新颖的SNP;然而，在常染色体显性遗传疾病（例如IBGC）的预测模型中，他们并没有仅与受影响的受试者隔离。

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