PMID- 10485139
OWN - NLM
STAT- MEDLINE
DCOM- 19991004
LR  - 20190513
IS  - 0022-1503 (Print)
IS  - 0022-1503 (Linking)
VI  - 90
IP  - 4
DP  - 1999 Jul-Aug
TI  - Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to 
      inherited canine conotruncal heart defects.
PG  - 494-8
AB  - Conotruncal defects (CTDs) of the heart are a frequent component of DiGeorge, 
      velocardiofacial, or other syndromes caused by deletions of the human chromosome 
      22q11 region (HSA22q11). In addition, some human patients with isolated 
      nonsyndromic CTDs have been reported to have deletions of this region. Taken 
      together, these findings lead to the conclusion that deletions of an HSA22q11 
      locus or loci produce abnormalities in cardiac development leading to CTDs. A 
      spontaneous model of isolated inherited conotruncal malformations occurs in the 
      keeshond dog. We have previously shown in experimental matings that nonsyndromic 
      CTDs in the keeshond are inherited in a manner consistent with a major underlying 
      locus. In the studies described in this article we tested two hypotheses: (1) the 
      region of HSA22q11 commonly deleted in DiGeorge and related syndromes is 
      evolutionarily conserved in the dog, and (2) a locus in this region is linked to 
      hereditary CTD in the keeshond. Two loci within the minimal DiGeorge critical 
      region (MDGCR) and two loci that lie telomeric to the MDGCR, one of which is 
      commonly deleted in DiGeorge patients, were mapped in the dog using a combination 
      of linkage analysis and fluorescence in situ hybridization (FISH). The results 
      confirm conserved synteny of the loci DGS-I, CTP, D22S788 (N41), and IGLC on the 
      telomeric end of canine chromosome 26 (CFA26). The group of four syntenic gene 
      loci, which spans a genetic distance of 2.5 cM is the first to be mapped to this 
      small acrocentric canine chromosome and adds gene-associated polymorphic markers 
      to the developing dog linkage map. Linkage of loci in this region to hereditary 
      CTD in the keeshond was excluded.
FAU - Werner, P
AU  - Werner P
AD  - Center for Comparative Medical Genetics, School of Veterinary Medicine, 
      University of Pennsylvania, Philadelphia 19104-6010, USA.
FAU - Raducha, M G
AU  - Raducha MG
FAU - Prociuk, U
AU  - Prociuk U
FAU - Budarf, M
AU  - Budarf M
FAU - Henthorn, P S
AU  - Henthorn PS
FAU - Patterson, D F
AU  - Patterson DF
LA  - eng
GR  - HL18848/HL/NHLBI NIH HHS/United States
GR  - HL51533/HL/NHLBI NIH HHS/United States
GR  - RR02512/RR/NCRR NIH HHS/United States
GR  - etc.
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Hered
JT  - The Journal of heredity
JID - 0375373
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Animals
MH  - Chromosome Mapping/*methods
MH  - DiGeorge Syndrome/*genetics
MH  - Dog Diseases/*genetics
MH  - Dogs/*genetics
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Heart Defects, Congenital/genetics/*veterinary
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
EDAT- 1999/09/15 00:00
MHDA- 1999/09/15 00:01
CRDT- 1999/09/15 00:00
PHST- 1999/09/15 00:00 [pubmed]
PHST- 1999/09/15 00:01 [medline]
PHST- 1999/09/15 00:00 [entrez]
AID - 10.1093/jhered/90.4.494 [doi]
PST - ppublish
SO  - J Hered. 1999 Jul-Aug;90(4):494-8. doi: 10.1093/jhered/90.4.494.