PMID- 8486384
OWN - NLM
STAT- MEDLINE
DCOM- 19930604
LR  - 20081121
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 16
IP  - 1
DP  - 1993 Apr
TI  - Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid 
      angiopathy (HCCAA), and other members of the cystatin gene family are clustered 
      on chromosome 20p11.2.
PG  - 50-5
AB  - The cystatin C gene (CST3) encodes a low-molecular-weight cysteine proteinase 
      inhibitor belonging to family II of the cystatin superfamily and is mutated in 
      cases of hereditary cystatin C amyloid angiopathy (HCCAA). CST3, which along with 
      other family II cystatin genes is a member of the cystatin gene family, has been 
      assigned to chromosome 20. To investigate the genomic organization on chromosome 
      20, the CST3 gene and related sequences were regionally mapped by fluorescence in 
      situ hybridization (FISH), Southern blot, and pulsed-field gel electrophoresis 
      (PFGE) analysis using the cDNA cystatin C probe C6a and three genomic probes, 
      C3E1, C3E2, and C3E2-2. Probe C3E2-2, which like probe C3E2 is specific for CST3, 
      hybridized to only one HindIII and one XbaI fragment on Southern blots and to a 
      300-kb BssHII PFGE fragment. FISH with probe C3E2 mapped this locus to chromosome 
      20p11.2, with an FL-pter value of 0.37 +/- 0.07 on the physical map. Probe C3E1 
      containing the most conserved cystatin gene exon (exon 1) and its flanking 
      sequences hybridized with more fragments, e.g., to eight XbaI and nine HindIII 
      fragments on conventional Southern blots and to eight SmaI, two BssHII (900 and 
      300 kb), and two NotI fragments after PFGE. FISH with C3E1 revealed only one 
      single site at 20p11.2 with an FL-pter value of 0.37 +/- 0.04, identical to that 
      obtained with C3E2.(ABSTRACT TRUNCATED AT 250 WORDS)
FAU - Schnittger, S
AU  - Schnittger S
AD  - Institut fur Humangenetik, Universitat Gottingen, Germany.
FAU - Rao, V V
AU  - Rao VV
FAU - Abrahamson, M
AU  - Abrahamson M
FAU - Hansmann, I
AU  - Hansmann I
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (CST3 protein, human)
RN  - 0 (Cystatin C)
RN  - 0 (Cystatins)
RN  - 0 (DNA Probes)
SB  - IM
EIN - Genomics 1993 Aug;17(2):533
MH  - Blotting, Southern
MH  - Cerebral Amyloid Angiopathy/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 20
MH  - Cystatin C
MH  - Cystatins/*genetics
MH  - DNA Probes
MH  - Electrophoresis, Gel, Pulsed-Field
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Multigene Family
EDAT- 1993/04/01 00:00
MHDA- 1993/04/01 00:01
CRDT- 1993/04/01 00:00
PHST- 1993/04/01 00:00 [pubmed]
PHST- 1993/04/01 00:01 [medline]
PHST- 1993/04/01 00:00 [entrez]
AID - S0888-7543(83)71139-0 [pii]
AID - 10.1006/geno.1993.1139 [doi]
PST - ppublish
SO  - Genomics. 1993 Apr;16(1):50-5. doi: 10.1006/geno.1993.1139.