PMID- 12473749
OWN - NLM
STAT- MEDLINE
DCOM- 20030121
LR  - 20181113
IS  - 0027-8424 (Print)
IS  - 1091-6490 (Electronic)
IS  - 0027-8424 (Linking)
VI  - 99
IP  - 26
DP  - 2002 Dec 24
TI  - Associations between human disease genes and overlapping gene groups and multiple 
      amino acid runs.
PG  - 17008-13
AB  - Overlapping gene groups (OGGs) arise when exons of one gene are contained within 
      the introns of another. Typically, the two overlapping genes are encoded on 
      opposite DNA strands. OGGs are often associated with specific disease phenotypes. 
      In this report, we identify genes with OGG architecture and genes encoding 
      multiple long amino acid runs and examine their relations to diseases. OGGs 
      appear to be susceptible to genomic rearrangements as happens commonly with the 
      loci of the DiGeorge syndrome on human chromosome 22. We also examine the degree 
      of conservation of OGGs between human and mouse. Our analyses suggest that (i) a 
      high proportion of genes in OGG regions are disease-associated, (ii) genomic 
      rearrangements are likely to occur within OGGs, possibly as a consequence of 
      anomalous sequence features prevalent in these regions, and (iii) multiple amino 
      acid runs are also frequently associated with pathologies.
FAU - Karlin, Samuel
AU  - Karlin S
AD  - Departments of Mathematics and Pathology, Stanford University, Stanford, CA 
      94305, USA. karlin@math.stanford.edu
FAU - Chen, Chingfer
AU  - Chen C
FAU - Gentles, Andrew J
AU  - Gentles AJ
FAU - Cleary, Michael
AU  - Cleary M
LA  - eng
GR  - R01 GM010452/GM/NIGMS NIH HHS/United States
GR  - 5R01GM10452-38/GM/NIGMS NIH HHS/United States
GR  - 5R01HG00335-15/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20021209
PL  - United States
TA  - Proc Natl Acad Sci U S A
JT  - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
RN  - 0 (Amino Acids)
SB  - IM
MH  - Amino Acids/*genetics
MH  - Animals
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*genetics
MH  - Exons
MH  - Gene Rearrangement
MH  - *Genes, Overlapping
MH  - Humans
MH  - Introns
MH  - Mice
PMC - PMC139260
EDAT- 2002/12/11 04:00
MHDA- 2003/01/22 04:00
PMCR- 2003/06/24
CRDT- 2002/12/11 04:00
PHST- 2002/12/11 04:00 [pubmed]
PHST- 2003/01/22 04:00 [medline]
PHST- 2002/12/11 04:00 [entrez]
PHST- 2003/06/24 00:00 [pmc-release]
AID - 262658799 [pii]
AID - pq2602017008 [pii]
AID - 10.1073/pnas.262658799 [doi]
PST - ppublish
SO  - Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17008-13. doi: 
      10.1073/pnas.262658799. Epub 2002 Dec 9.