PMID- 10607832
OWN - NLM
STAT- MEDLINE
DCOM- 20000228
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 9
IP  - 2
DP  - 2000 Jan 22
TI  - Myoferlin, a candidate gene and potential modifier of muscular dystrophy.
PG  - 217-26
AB  - Dysferlin, the gene product of the limb girdle muscular dystrophy (LGMD) 2B
      locus, encodes a membrane-associated protein with homology to Caenorhabditis
      elegans fer-1. Humans with mutations in dysferlin ( DYSF ) develop muscle
      weakness that affects both proximal and distal muscles. Strikingly, the phenotype
      in LGMD 2B patients is highly variable, but the type of mutation in DYSF cannot
      explain this phenotypic variability. Through electronic database searching, we
      identified a protein highly homologous to dysferlin that we have named myoferlin.
      Myoferlin mRNA was highly expressed in cardiac muscle and to a lesser degree in
      skeletal muscle. However, antibodies raised to myoferlin showed abundant
      expression of myoferlin in both cardiac and skeletal muscle. Within the cell,
      myoferlin was associated with the plasma membrane but, unlike dysferlin,
      myoferlin was also associated with the nuclear membrane. Ferlin family members
      contain C2 domains, and these domains play a role in calcium-mediated membrane
      fusion events. To investigate this, we studied the expression of myoferlin in the
      mdx mouse, which lacks dystrophin and whose muscles undergo repeated rounds of
      degeneration and regeneration. We found upregulation of myoferlin at the membrane
      in mdx skeletal muscle. Thus, myoferlin ( MYOF ) is a candidate gene for muscular
      dystrophy and cardiomyopathy, or possibly a modifier of the muscular dystrophy
      phenotype.
FAU - Davis, D B
AU  - Davis DB
AD  - Department of Pathology, University of Chicago, IL 60637, USA.
FAU - Delmonte, A J
AU  - Delmonte AJ
FAU - Ly, C T
AU  - Ly CT
FAU - McNally, E M
AU  - McNally EM
LA  - eng
SI  - GENBANK/AF182316
SI  - GENBANK/AF182317
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (DYSF protein, human)
RN  - 0 (Dysferlin)
RN  - 0 (MYOF protein, human)
RN  - 0 (Membrane Proteins)
RN  - 0 (Muscle Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (myoferlin protein, mouse)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Blotting, Northern
MH  - Calcium-Binding Proteins
MH  - Cell Membrane/metabolism
MH  - Dysferlin
MH  - Humans
MH  - Membrane Proteins/biosynthesis/*genetics/isolation & purification
MH  - Mice
MH  - Mice, Inbred mdx
MH  - Molecular Sequence Data
MH  - Muscle Proteins/biosynthesis/*genetics/isolation & purification
MH  - Muscle, Skeletal/metabolism
MH  - Muscular Dystrophies/*genetics/metabolism
MH  - Myocardium/metabolism
MH  - Nuclear Envelope/metabolism
MH  - RNA, Messenger/analysis
EDAT- 1999/12/23 09:00
MHDA- 2000/03/04 09:00
CRDT- 1999/12/23 09:00
PHST- 1999/12/23 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 1999/12/23 09:00 [entrez]
AID - ddd030 [pii]
AID - 10.1093/hmg/9.2.217 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2000 Jan 22;9(2):217-26. doi: 10.1093/hmg/9.2.217.