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LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2.

作者信息

Reiner O, Bar-Am I, Sapir T, Shmueli O, Carrozzo R, Lindsay E A, Baldini A, Ledbetter D H, Cahana A

机构信息

Department of Molecular Genetics and Virology, Weizmann Institute of Science, Rehovot, Israel.

出版信息

Genomics. 1995 Nov 20;30(2):251-6. doi: 10.1006/geno.1995.9880.

DOI:10.1006/geno.1995.9880
PMID:8586424
Abstract

We report here the isolation of a novel cDNA, designated LIS2, that maps to chromosome 2p11.2 by in situ hybridization and demonstrates extremely high sequence similarity to the recently identified LIS1 gene involved in Miller-Dieker lissencephaly at 17p13.3. Specific probes for LIS2 revealed a pattern of expression resembling that of LIS1, although LIS2 is less abundant. Surprisingly, LIS2 detected an additional, higher molecular weight transcript in adult skeletal muscle. Isolated YAC clones and P1 clones mapped by in situ hybridization to two loci on chromosome 2,2p11.2 and 2q13-q14. This hybridization was due to the existence of LIS2 pseudogene LIS2P on the long arm of chromosome 2.

摘要

相似文献

1
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Genomics. 1995 Nov 20;30(2):251-6. doi: 10.1006/geno.1995.9880.
2
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
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14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region.14-3-3ε与LIS1没有同源性,位于17号染色体p13.3上其端粒侧,在米勒-迪克尔综合征染色体区域之外。
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Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.LIS1部分缺失:米勒-迪克尔综合征分子诊断中的一个陷阱。
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Eur J Hum Genet. 2000 Mar;8(3):209-14. doi: 10.1038/sj.ejhg.5200434.

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Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8549-54. doi: 10.1073/pnas.0502303102. Epub 2005 Jun 6.
2
The unfolding story of two lissencephaly genes and brain development.两个无脑回畸形基因与大脑发育的进展情况
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Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
NPHP1基因座的特征:家族性青少年肾单位肾痨中缺失所涉及的突变机制。
Am J Hum Genet. 2000 Mar;66(3):778-89. doi: 10.1086/302819.