Physical mapping of the MEGF1 gene, human homologue of the Drosophila tumour suppressor gene fat, to the critical region of the 5q-syndrome

GeneScreen Pub Date : 2002-01-25 DOI:10.1046/j.1466-9218.2001.00015.x

Carrie Fidler, Manabu Nakayama, Ethylin Wang Jabs, Jan-Fang Cheng, Amanda Strickson, Osamu Ohara, James S. Wainscoat, Jacqueline Boultwood

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引用次数: 3

Abstract

Introduction The 5q-syndrome is a myelodysplastic syndrome with the 5q deletion as the sole karyotypic abnormality. The MEGF1 gene is the human homologue of the Drosophilafat tumour suppressor gene.

Results We have mapped this gene to the 3 Mb critical region of the 5q-syndrome within 5q31–32, using gene dosage analysis. Fine physical mapping of the MEGF1 gene within this genomic interval was then performed by screening YAC and BAC contigs spanning the critical region using PCR amplification. The MEGF1 gene maps between the genes for SPARC and Annexin-6 at 5q32, and is flanked by the genetic markers D5S2146 and D5S2077. We have demonstrated the expression of MEGF1 in a range of haematological tissues using RT-PCR analysis.

Discussion Genomic localization, expression and predicted function would suggest that the MEGF1 gene represents a candidate gene for the 5q-syndrome.

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MEGF1基因的物理定位，果蝇肿瘤抑制基因脂肪的人类同源物，到5q综合征的关键区域

5q综合征是一种以5q缺失为唯一核型异常的骨髓增生异常综合征。MEGF1基因是果蝇肿瘤抑制基因的人类同源基因。结果通过基因剂量分析，将该基因定位到5q31-32中5q综合征的3mb关键区域。然后，通过使用PCR扩增技术筛选跨越关键区域的YAC和BAC组群，在该基因组区间内对MEGF1基因进行精细的物理定位。MEGF1基因位于SPARC基因和Annexin-6基因之间的5q32位点，两侧是遗传标记D5S2146和D5S2077。我们利用RT-PCR分析证实了MEGF1在一系列血液组织中的表达。基因组定位、表达和预测功能提示MEGF1基因是5q综合征的候选基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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