Fibroblast growth factor homologous factor 2 (FHF2):: gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Fibroblast growth factor homologous factor 2 (FHF2):: gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
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DOI：
10.1007/s004390050910
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发表时间：
1999-01-01
期刊：
影响因子：
5.3
通讯作者：
Mulley, JC
中科院分区：
文献类型：
--
作者：
Gecz, J;Baker, E;Mulley, JC
Borjeson-Forssman-Lehmann综合征（BFLS）是一种X连锁的精神发育迟滞综合征，通过连锁定位到人类X染色体的q26区域。我们已经确定了一名男性患者，具有BFLS样特征和重复，46，Y. dup（X）（q26 q28），遗传自其表型正常的母亲。荧光原位杂交，使用酵母人工染色体克隆Xq 26本地化的重复断裂点之间的DXS 155和DXS 294/DXS 730的Xq36.3区域类似于400 kb的间隔。数据库淀粉和分析可用的基因组DNA序列从该地区揭示了存在的成纤维细胞生长因子同源因子基因，FHF 2，在重复断点间隔。确定了FHF 2的基因结构，并鉴定了两个新的外显子，包括一个新的5'端外显子1B。FHF 2是一个在Xq26.3中延伸超过200 kb的大基因，由至少7个外显子组成。它显示了组织特异性选择性剪接和选择性转录的启动。北方印迹杂交显示在脑和骨骼肌中表达最高。FHF 2基因定位和组织特异性表达模式表明它是BFLS综合征和其他综合征和X连锁精神发育迟滞映射到：区域的非特异性形式的家族性病例的候选基因。
Borjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome. We have identified a male patient with BFLS-like features and a duplication, 46,Y.dup(X)(q26q28), inherited from his phenotypically normal mother. Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an similar to 400-kb interval in the Xq36.3 region between DXS155 and DXS294/DXS730. Database starches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval. The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B. FHF2 is a large gene extending over similar to 200 kb in Xq26.3 and is composed of at least seven exons. It shows tissue-specific alternative splicing and alternative transcription starts. Northern blot hybridisation showed highest expression in brain and skeletal muscle. The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the: region.