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Publication : Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.

First Author  Growney JD Year  2000
Journal  Genomics Volume  64
Issue  1 Pages  62-81
PubMed ID  10708519 Mgi Jnum  J:61136
Mgi Id  MGI:1354483 Doi  10.1006/geno.1999.6111
Citation  Growney JD, et al. (2000) Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Genomics 64(1):62-81
abstractText  The orthologous genomic segments on mouse chromosome 13D1-D3 and human chromosome 5q11.2-q13.3 have been extensively studied because of their involvement in two distinct disease phenotypes, spinal muscular atrophy (SMA) in human and susceptibility to Legionella pneumophila (determined by Lgn1) in mice. The overlapping intervals in both species contain genomic amplifications of distinct structure, indicating an independent origin. We have endeavored to construct a comprehensive comparative gene map of the mouse and human Lgn1/SMA intervals in the hopes that the origins and maintenance of the genomic amplifications may become clear. Our comparative gene map demonstrates that the only regional gene in common between the amplified segments in mouse and human is the Lgn1 candidate Naip/NAIP. We have also determined that mice of the 129 haplotype harbor seven intact and three partial Naip transcription units arranged in a closely linked direct repeat on chromosome 13. Several, but not all, of these Naip loci are contained within the Lgn1 critical interval. We present a model for the origins of the mouse and human repetitive arrays from a common ancestral haplotype. Copyright 2000 Academic Press.
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