PMID- 7989042
OWN - NLM
STAT- MEDLINE
DCOM- 19950110
LR  - 20220129
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 94
IP  - 6
DP  - 1994 Dec
TI  - The motilin gene: subregional localisation, tissue expression, DNA polymorphisms 
      and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome.
PG  - 671-4
AB  - The product of the human motilin gene (MLN) has an important role in regulating 
      gastrointestinal motility. The precise chromosomal localisation and expression of 
      this gene are still unresolved. Here, we report a detailed study assigning MLN to 
      6p21.3; MLN is tightly linked to the HLA-DQalpha locus. Moreover, MLN expression 
      has been evaluated in a large series of tissues. Positive signals have been 
      obtained for brain, bronchi and a gastrointestinal malignancy. Direct sequencing 
      exon by exon of the codifying region, intron/exon boundaries and promoter has 
      allowed the identification of three DNA polymorphisms, one of which corresponds 
      to a common protein variant. The chromosomal localisation of MLN, and its 
      expression in broncoepithelial cells suggests that this gene is involved in 
      immotile-cilia syndrome (ICS) disease. Sequence and segregation analysis of the 
      MLN gene carried out in two families, in which the disease locus was previously 
      assigned to 6p21.3, exclude MLN as a candidate gene for the HLA-associated form 
      of ICS.
FAU - Gasparini, P
AU  - Gasparini P
AD  - Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, FG, Italy.
FAU - Grifa, A
AU  - Grifa A
FAU - Savasta, S
AU  - Savasta S
FAU - Merlo, I
AU  - Merlo I
FAU - Bisceglia, L
AU  - Bisceglia L
FAU - Totaro, A
AU  - Totaro A
FAU - Zelante, L
AU  - Zelante L
LA  - eng
GR  - E.0032/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (HLA Antigens)
RN  - 0 (HLA-DQ Antigens)
RN  - 52906-92-0 (Motilin)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - Ciliary Motility Disorders/*genetics
MH  - DNA/analysis
MH  - Genetic Linkage
MH  - HLA Antigens/*genetics
MH  - HLA-DQ Antigens/genetics
MH  - Humans
MH  - Molecular Sequence Data
MH  - Motilin/*genetics
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Genetic
EDAT- 1994/12/01 00:00
MHDA- 1994/12/01 00:01
CRDT- 1994/12/01 00:00
PHST- 1994/12/01 00:00 [pubmed]
PHST- 1994/12/01 00:01 [medline]
PHST- 1994/12/01 00:00 [entrez]
AID - 10.1007/BF00206962 [doi]
PST - ppublish
SO  - Hum Genet. 1994 Dec;94(6):671-4. doi: 10.1007/BF00206962.