Sophie and Lili's Mom
03-10-2006, 03:35 PM
From the AKC Canine Health Foundation
< www.akcchf.org >
"Merle Patterning Gene Identified"
[Wednesday, March 08, 2006]
The AKC Canine Health Foundation announces that Dr.
Keith Murphy’s laboratory has published its findings
describing the genetic cause of merle coat patterning
in dogs. Dr. Murphy is Professor, Department of
Pathobiology at the College of Veterinary Medicine and
Biomedical Sciences of Texas A&M University and has
been funded by the CHF for various projects. The
findings are significant in that dogs with merle
patterning often suffer from deafness and ocular
abnormalities. Therefore, the merle findings will
certainly assist future research concerning these
canine health issues.
Merle is a pattern of coloring observed in the coat of
the domestic dog and is characterized by patches of
diluted pigment. This trait is inherited in an
autosomal, incompletely dominant fashion. Dogs
heterozygous or homozygous for the merle locus exhibit
a wide range of auditory and ophthalmologic
abnormalities, which are similar to those observed for
the human auditory–pigmentation disorder Waardenburg
syndrome. Mutations in at least five genes have been
identified as causative for Waardenburg syndrome;
however, the genetic bases for all cases have not been
determined. Linkage disequilibrium was identified for
a microsatellite marker with the merle phenotype in
the Shetland Sheepdog. This region of the human genome
contains SILV, a gene important in mammalian
pigmentation. Therefore, this gene was evaluated as a
candidate for merle patterning. These data show that
SILV is responsible for merle patterning and is
associated with impaired function of the auditory and
ophthalmologic systems. Although the mutant phenotype
of SILV in the human is unknown, these results make it
an intriguing candidate gene for human
auditory–pigmentation disorders. The patented genetic
test for merle is now available through the Canadian
company, Vita-Tech which carries out tests for merle
in multiple breeds. More information on Vita-Tech can
be found at: http://www.vita-tech.com/home.cfm.
The results of this work are published as
Retrotransposon Insertion in SILV is Responsible for
Merle Patterning of the Domestic Dog (Clark et al.) in
the January 31, 2006 issue of the Proceedings of the
National Academy of Sciences of the United States of
America (PNAS).
< www.akcchf.org >
"Merle Patterning Gene Identified"
[Wednesday, March 08, 2006]
The AKC Canine Health Foundation announces that Dr.
Keith Murphy’s laboratory has published its findings
describing the genetic cause of merle coat patterning
in dogs. Dr. Murphy is Professor, Department of
Pathobiology at the College of Veterinary Medicine and
Biomedical Sciences of Texas A&M University and has
been funded by the CHF for various projects. The
findings are significant in that dogs with merle
patterning often suffer from deafness and ocular
abnormalities. Therefore, the merle findings will
certainly assist future research concerning these
canine health issues.
Merle is a pattern of coloring observed in the coat of
the domestic dog and is characterized by patches of
diluted pigment. This trait is inherited in an
autosomal, incompletely dominant fashion. Dogs
heterozygous or homozygous for the merle locus exhibit
a wide range of auditory and ophthalmologic
abnormalities, which are similar to those observed for
the human auditory–pigmentation disorder Waardenburg
syndrome. Mutations in at least five genes have been
identified as causative for Waardenburg syndrome;
however, the genetic bases for all cases have not been
determined. Linkage disequilibrium was identified for
a microsatellite marker with the merle phenotype in
the Shetland Sheepdog. This region of the human genome
contains SILV, a gene important in mammalian
pigmentation. Therefore, this gene was evaluated as a
candidate for merle patterning. These data show that
SILV is responsible for merle patterning and is
associated with impaired function of the auditory and
ophthalmologic systems. Although the mutant phenotype
of SILV in the human is unknown, these results make it
an intriguing candidate gene for human
auditory–pigmentation disorders. The patented genetic
test for merle is now available through the Canadian
company, Vita-Tech which carries out tests for merle
in multiple breeds. More information on Vita-Tech can
be found at: http://www.vita-tech.com/home.cfm.
The results of this work are published as
Retrotransposon Insertion in SILV is Responsible for
Merle Patterning of the Domestic Dog (Clark et al.) in
the January 31, 2006 issue of the Proceedings of the
National Academy of Sciences of the United States of
America (PNAS).