PMID- 22762706
OWN - NLM
STAT- MEDLINE
DCOM- 20130822
LR  - 20130306
IS  - 1365-2052 (Electronic)
IS  - 0268-9146 (Linking)
VI  - 44
IP  - 2
DP  - 2013 Apr
TI  - A frameshift mutation in the LYST gene is responsible for the Aleutian color and 
      the associated Chediak-Higashi syndrome in American mink.
PG  - 178-83
LID - 10.1111/j.1365-2052.2012.02391.x [doi]
AB  - One of the colors of mink is Aleutian (aa)-a specific gun-metal gray pigmentation 
      of the fur-commonly used in combination with other color loci to generate popular 
      colors such as Violet (aammpp) and Sapphire (aapp). The Aleutian color allele is 
      a manifestation of mink Chediak-Higashi syndrome (CHS), which has been described 
      in humans and several other species. As with forms of CHS in other species, we 
      report that the mink CHS is linked to the lysosomal trafficking regulator ( LYST 
      ) gene. Furthermore, we have identified a base deletion (c.9468delC) in exon 40 
      of LYST, which causes a frameshift and virtually terminates the LYST product 
      prematurely (p.Leu3156Phefs*37). We investigated the blood parameters of three 
      wild-type mink and three CHS mink. No difference in the platelet number between 
      the two groups was observed, but an accumulation of platelets between the groups 
      appears different when collagen is used as a coagulant. Microscopic analysis of 
      peripheral blood indicates giant inclusions in the neutrophils of the Aleutian 
      mink types. Molecular findings at the LYST locus enable the development of 
      genetic tests for analyzing the color selection in American mink.
CI  - (c) 2012 The Authors, Animal Genetics (c) 2012 Stichting International Foundation for 
      Animal Genetics.
FAU - Anistoroaei, R
AU  - Anistoroaei R
AD  - Division of Animal Genetics and Bioinformatics, Department of Basic Animal and 
      Veterinary Sciences, The Faculty of Life Sciences, University of Copenhagen, 
      Groennegaardsvej 3, Frederiksberg C, Denmark. ran@life.ku.dk
FAU - Krogh, A K
AU  - Krogh AK
FAU - Christensen, K
AU  - Christensen K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120705
PL  - England
TA  - Anim Genet
JT  - Animal genetics
JID - 8605704
RN  - 0 (DNA Primers)
RN  - 0 (Vesicular Transport Proteins)
SB  - IM
MH  - Aleutian Mink Disease/*genetics
MH  - Animals
MH  - Base Sequence
MH  - DNA Primers/genetics
MH  - Frameshift Mutation/*genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotype
MH  - Hair Color/*genetics
MH  - Inclusion Bodies/pathology
MH  - Mink
MH  - Molecular Sequence Data
MH  - Neutrophils/cytology
MH  - Platelet Count/veterinary
MH  - Sequence Analysis, DNA/veterinary
MH  - Vesicular Transport Proteins/*genetics
EDAT- 2012/07/06 06:00
MHDA- 2013/08/24 06:00
CRDT- 2012/07/06 06:00
PHST- 2012/04/23 00:00 [accepted]
PHST- 2012/07/06 06:00 [entrez]
PHST- 2012/07/06 06:00 [pubmed]
PHST- 2013/08/24 06:00 [medline]
AID - 10.1111/j.1365-2052.2012.02391.x [doi]
PST - ppublish
SO  - Anim Genet. 2013 Apr;44(2):178-83. doi: 10.1111/j.1365-2052.2012.02391.x. Epub 
      2012 Jul 5.