Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX
Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX
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DOI：
10.1006/geno.1997.4876
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发表时间：
1997-09-01
期刊：
影响因子：
4.4
通讯作者：
Mazzarella, R
中科院分区：
文献类型：
--
作者：
Grieff, M;Whyte, MP;Mazzarella, R
人类 Xp22.1 含有与矿物质平衡相关的基因，这些基因与人类 X 连锁低磷血症 (XLH)、其鼠科同源物 (Hyp) 和另一种独特的鼠科低磷血症 (Gy) 相关。在 XLH 中，已发现高达 83% 的患者中的基因 PEX 发生突变，但启动子和 5' 末端的序列尚未表征。为了进一步了解该基因组区域，Xp22.1 中的 139,454 bp 已被测序，我们的分析证实了 PEX 的三个最 5' 已发表的外显子，并延伸通过推定的 PEX 启动子区域。PEX 的 5' 非翻译序列与小鼠和大鼠的等同物具有非常高的同源性，这意味着保守的功能意义。此外，我们还绘制并分析了 PEX 的另一个基因 5' 精胺合酶 (SpS)，它编码一种普遍存在的多胺代谢酶，可能有助于 Gy 的病理生理学。 SpS 由分布在 54 kb 上的 11 个外显子组成。SpS 位置和 PEX 推定启动子区域的定义将有助于这些基因的功能分析。 (C) 1997 年学术出版社。
Human Xp22.1 contains genes involved in mineral balance that are implicated in X-linked hypophosphatemia (XLH) in humans, its murine homologue (Hyp), and another distinct murine hypophosphatemic disorder (Gy), In XLH, a gene, PEX, has been found to be mutated in up to 83% of patients but the sequences of the promoter and 5' end have not been characterized. To further the understanding of this genomic region, 139,454 bp in Xp22.1 have been sequenced, Our analysis confirms the three most 5' published exons of PEX and extends through a putative PEX promoter region, The 5' untranslated sequence of PEX and the mouse and rat equivalents are very highly homologous, implying a conserved functional significance. In addition, we mapped and analyzed another gene 5' of PEX, spermine synthase (SpS), which encodes a ubiquitous enzyme of polyamine metabolism that may contribute to the pathophysiology of Gy. SpS consists of 11 exons spread over 54 kb, The definition of the locations of SpS and the putative promoter region of PEX will facilitate functional analysis of these genes. (C) 1997 Academic Press.