PMID- 10369880
OWN - NLM
STAT- MEDLINE
DCOM- 19990816
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 7
DP  - 1999 Jul
TI  - Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a
      candidate gene for limb-girdle muscular dystrophy.
PG  - 1329-36
AB  - The striated muscle sarcomeres are highly organized structures composed of actin 
      (thin) and myosin (thick) filaments that slide past each other during
      contraction. The integrity of sarcomeres is controlled by a set of structural
      proteins, among which are titin, a giant molecule that contains several
      immunoglobulin (Ig)-like domains and associates with thin and thick filaments,
      and [alpha]-actinin, an actin cross-linking protein. Mutations in several
      sarcomeric and sarcolemmal proteins have been shown to result in muscular
      dystrophy and cardiomyopathy. On the other hand, the disease genes underlying
      several disease forms remain to be identified. Here we describe a novel 57 kDa
      cytoskeletal protein, myotilin. Its N-terminal sequence is unique, but the
      C-terminal half contains two Ig-like domains homologous to titin. Myotilin is
      expressed in skeletal and cardiac muscle, it co-localizes with [alpha]-actinin in
      the sarcomeric I--bands and directly interacts with [alpha]-actinin. The human
      myotilin gene maps to chromosome 5q31 between markers AFM350yB1 and D5S500. The
      locus of a dominantly inherited limb-girdle muscular dystrophy (LGMD1A) resides
      in an overlapping narrow segment, and a new type of distal myopathy with vocal
      cord and pharyngeal weakness (VCPMD) has been mapped to the same locus. The
      muscle specificity and apparent role as a sarcomeric structural protein raise the
      possibility that defects in the myotilin gene may cause muscular dystrophy.
FAU - Salmikangas, P
AU  - Salmikangas P
AD  - Department of Pathology, University of Helsinki, Haartman Institute, Helsinki,
      Finland.
FAU - Mykkanen, O M
AU  - Mykkanen OM
FAU - Gronholm, M
AU  - Gronholm M
FAU - Heiska, L
AU  - Heiska L
FAU - Kere, J
AU  - Kere J
FAU - Carpen, O
AU  - Carpen O
LA  - eng
SI  - GENBANK/AF144477
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Connectin)
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Immunoglobulins)
RN  - 0 (MYOT protein, human)
RN  - 0 (Muscle Proteins)
RN  - 11003-00-2 (Actinin)
SB  - IM
MH  - Actinin/metabolism
MH  - Amino Acid Sequence
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 5
MH  - Connectin
MH  - Cytoskeletal Proteins
MH  - DNA, Complementary/analysis
MH  - Gene Expression
MH  - Humans
MH  - Immunoglobulins/chemistry
MH  - Molecular Sequence Data
MH  - Muscle Proteins/*genetics/metabolism
MH  - Muscle, Skeletal/metabolism
MH  - Muscular Dystrophies/*genetics
MH  - Protein Conformation
MH  - Sarcomeres/*genetics/metabolism
MH  - Sequence Homology, Amino Acid
MH  - Subcellular Fractions
EDAT- 1999/06/17 00:00
MHDA- 1999/06/17 00:01
CRDT- 1999/06/17 00:00
PHST- 1999/06/17 00:00 [pubmed]
PHST- 1999/06/17 00:01 [medline]
PHST- 1999/06/17 00:00 [entrez]
AID - ddc145 [pii]
AID - 10.1093/hmg/8.7.1329 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Jul;8(7):1329-36. doi: 10.1093/hmg/8.7.1329.