PMID- 10798355
OWN - NLM
STAT- MEDLINE
DCOM- 20000523
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 106
IP  - 3
DP  - 2000 Mar
TI  - Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with 
      left-right axis malformation.
PG  - 277-87
AB  - An inv(11)(q13.5;q25) inversion was previously identified in a 9-month-old male 
      patient with complex cyanotic heart defects, altered lung lobation, symmetric 
      liver, and abnormally lobulated spleen (polysplenia). This chromosomal 
      rearrangement was inherited from the phenotypically normal father. We termed 
      these regions DHTX-A (disrupted in heterotaxy)-- A at 11q13.5 and DHTX-B at 
      11q25. Here, we report the isolation and characterization of the inversion 
      breakpoints and the gene that is disrupted by the DHTX-A breakpoint. The putative 
      DHTX is identical to the UVRAG gene, which was originally identified as a gene 
      that complements the UV sensitivity of xeroderma pigmentosum complementation 
      group C. The 4-kb mRNA was found to be encoded by a large gene, at least 300 kb 
      long, composed of 15 exons. The function of the gene product remains largely 
      unknown. However, the near central portion of the UVRAG protein is predicted to 
      contain a coiled-coil domain, which has been implicated in mediating 
      protein-protein interactions. Southern analyses and fluorescence in situ 
      hybridization (FISH) revealed that the DHTX-A breakpoint in the patient and his 
      father lies within the intron between exons 6 and 7 of UVRAG. Northern blot 
      analysis indicated strong expression in human fetal and adult tissues and in 
      mouse embryonic day-7 and adult tissues, respectively. Whole mount in situ 
      hybridization also showed that the Uvrag gene is expressed in the presomite-stage 
      embryo. Several hypotheses are discussed to explain the relationship between the 
      chromosomal inversion and the accompanying phenotypes.
FAU - Iida, A
AU  - Iida A
AD  - Department of Molecular Biology, Institute of Gerontology (ROUKEN), Nippon 
      Medical School, Kawasaki, Kanagawa, Japan. ariiida@nms.ac.jp
FAU - Emi, M
AU  - Emi M
FAU - Matsuoka, R
AU  - Matsuoka R
FAU - Hiratsuka, E
AU  - Hiratsuka E
FAU - Okui, K
AU  - Okui K
FAU - Ohashi, H
AU  - Ohashi H
FAU - Inazawa, J
AU  - Inazawa J
FAU - Fukushima, Y
AU  - Fukushima Y
FAU - Imai, T
AU  - Imai T
FAU - Nakamura, Y
AU  - Nakamura Y
LA  - eng
SI  - GENBANK/AB012958
SI  - GENBANK/AB020334
SI  - GENBANK/AB030580
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 0 (UVRAG protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Blotting, Southern
MH  - Cell Line
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Inversion
MH  - *Chromosomes, Human, Pair 11
MH  - Cloning, Molecular
MH  - Dextrocardia/genetics
MH  - Embryonic and Fetal Development
MH  - Exons
MH  - Heart Defects, Congenital/diagnostic imaging/*genetics
MH  - Humans
MH  - In Situ Hybridization
MH  - Infant
MH  - Introns
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Physical Chromosome Mapping
MH  - Proteins/chemistry/*genetics
MH  - RNA, Messenger/genetics
MH  - Radiography
MH  - Tumor Suppressor Proteins
EDAT- 2000/05/08 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/05/08 09:00
PHST- 2000/05/08 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/05/08 09:00 [entrez]
AID - 10.1007/s004390051038 [doi]
PST - ppublish
SO  - Hum Genet. 2000 Mar;106(3):277-87. doi: 10.1007/s004390051038.