Martindale D W, Wilson M D, Wang D, Burke R D, Chen X, Duronio V, Koop B F
Department of Biology, Centre for Environmental Health, P.O. Box 3020, University of Victoria, Victoria, British Columbia, V8W 3N5 Canada.
Mamm Genome. 2000 Oct;11(10):890-8. doi: 10.1007/s003350010166.
Williams syndrome (WS) is a complex neurodevelopmental disorder arising from a microdeletion at Chr band 7q11.23, which results in a hemizygous condition for a number of genes. Within this region we have completely characterized 200 kb containing the genes LIMK1, WBSCR1, and RFC2. Evidence was also found for WBSCR5 in this region, but not the previously proposed genes WSCR2 and WSCR6. The syntenic region in mouse was also sequenced (115 kb) and characterized, and a comparative sequence analysis with a percent identity plot (PIP) easily allowed us to identify coding exons. This genomic region is GC rich (50.1% human, 49.9% mouse) and contains an unusually high abundance of repetitive elements consisting primarily of Alu (45.4%, one of the highest levels identified to date) in human, and the B family of SINES (30.6% of the total sequence) in mouse. WBSCR1 corresponds to eukaryotic initiation factor 4H, identified in rabbit, and is herein found to be constitutively expressed in both human and mouse, with two RNA and protein products formed (exon 5 is alternatively spliced). The transcription pattern of WBSCR5 was also examined and discussed along with its putative amino acid sequence.
威廉姆斯综合征（WS）是一种复杂的神经发育障碍，由染色体7q11.23区域的微缺失引起，这导致多个基因半合子状态。在该区域内，我们已完整表征了包含LIMK1、WBSCR1和RFC2基因的200 kb区域。在该区域还发现了WBSCR5的证据，但未发现先前提出的WSCR2和WSCR6基因。对小鼠的同区域序列（115 kb）也进行了测序和表征，通过百分比同一性图（PIP）进行的比较序列分析使我们能够轻松识别编码外显子。该基因组区域富含GC（人类为50.1%，小鼠为49.9%），并且包含异常高丰度的重复元件，在人类中主要由Alu组成（45.4%，是迄今为止确定的最高水平之一），在小鼠中由SINE的B家族组成（占总序列的30.6%）。WBSCR1对应于在兔中鉴定出的真核起始因子4H，本文发现其在人类和小鼠中均组成性表达，形成两种RNA和蛋白质产物（外显子5可变剪接）。还研究并讨论了WBSCR5的转录模式及其推测的氨基酸序列。
