NDLI: Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25

Content Provider	Springer Nature Link
Author	Runkel, Fabian Büssow, Heinrich Seburn, Kevin L. Cox, Gregory A. Ward, Diane McVey Kaplan, Jerry Franz, Thomas
Copyright Year	2006
Abstract	The murine beige mutant phenotype and the human Chediak-Higashi syndrome are caused by mutations in the murine Lyst (lysosomal trafficking regulator) gene and the human CHS gene, respectively. In this report we have analyzed a novel murine mutant Lyst allele, called Lystbg-grey, that had been found in an ENU mutation screen and named grey because of the grey coat color of affected mice. The phenotype caused by the Lystbg-grey mutation was inherited in a recessive fashion. Melanosomes of melanocytes associated with hair follicles and the choroid layer of the eye, as well as melanosomes in the neural tube-derived pigment epithelium of the retina, were larger and irregularly shaped in homozygous mutants compared with those of wild-type controls. Secretory vesicles in dermal mast cells of the mutant skin were enlarged as well. Test crosses with beige homozygous mutant mice (Lystbg) showed that double heterozygotes (Lystbg/Lystbg-grey) were phenotypically indistinguishable from either homozygous parent, demonstrating that the ENU mutation was an allele of the murine Lyst gene. RT-PCR analyses revealed the skipping of exon 25 in Lystbg-grey mutants, which is predicted to cause a missense D2399E mutation and the loss of the following 77 amino acids encoded by exon 25 but leave the C-terminal end of the protein intact. Analysis of the genomic Lyst locus around exon 25 showed that the splice donor at the end of exon 25 showed a T-to-C transition point mutation. Western blot analysis suggests that the Lystbg-grey mutation causes instability of the LYST protein. Because the phenotype of Lystbg and Lystbg-grey mutants is indistinguishable, at least with respect to melanosomes and secretory granules in mast cells, the Lystbg-grey mutation defines a critical region for the stability of the murine LYST protein.
Starting Page	203
Ending Page	210
Page Count	8
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	17
Issue Number	3
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-03-03
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Anatomy Zoology Cell Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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