PMID- 10627138
OWN - NLM
STAT- MEDLINE
DCOM- 20000105
LR  - 20211203
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 1
DP  - 1998
TI  - A frequent mutation in the acidic proline-rich protein gene, PRH2, causing a
      Q147K change closely adjacent to the bacterial binding domain of the cognate
      salivary PRP (Pr1') in Afro-Americans. Mutations in brief no. 154. Online.
PG  - 72
AB  - The human salivary proline-rich proteins (PRPs) are coded by six closely linked
      genes on chromosome 12p13.2. Two of the PRP genes, PRH1 and PRH2, code for acidic
      PRPs that are functionally important in binding to teeth surfaces, in maintaining
      a supersaturated concentration of salivary calcium, and in promoting adherence of
      potentially pathogenic oral bacteria to the teeth surfaces. A frequent acidic PRP
      electrophoretic variant is found in Afro-Americans and was presumed to be located
      in the 44 amino acid carboxy-terminal portion of the full length protein (150
      amino acids). This region (and especially the carboxy-terminal dipeptide) may be 
      crucial in promoting bacterial adherence to teeth surfaces. We here report, by
      DNA sequence analysis, a C-->A(2957) transversion that causes a Q147K change in
      the PR1' protein. The mutation is located two residues from the carboxy-terminal 
      dipeptide and thus might influence its bacterial adherence property. We also
      report a PCR-based assay for the C-->A(2957) mutation and show its applicability 
      in an Afro-American population (n=61) where the allele frequency (as determined
      from phenotyping of saliva proteins and PCR DNA analysis) was found to be notably
      high (0.16).
FAU - Azen, E A
AU  - Azen EA
AD  - Department of Medicine and Medical Genetics, Unviersity of Wisconsin, Madison,
      Wisconsin, USA. azen@vms.2.macc.wisc.edu
LA  - eng
GR  - 5-R37-DE03658-30/DE/NIDCR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (PRH1 protein, human)
RN  - 0 (Peptides)
RN  - 0 (Salivary Proline-Rich Proteins)
RN  - 0 (Salivary Proteins and Peptides)
RN  - 9DLQ4CIU6V (Proline)
SB  - IM
MH  - Bacteremia/*genetics
MH  - Blacks/*genetics
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Humans
MH  - Mutation/*genetics
MH  - Peptides/*genetics
MH  - Proline
MH  - Proline-Rich Protein Domains
MH  - Salivary Proline-Rich Proteins
MH  - Salivary Proteins and Peptides/*genetics
EDAT- 2000/01/08 09:00
MHDA- 2000/06/22 10:00
CRDT- 2000/01/08 09:00
PHST- 2000/01/08 09:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 2000/01/08 09:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU18>3.0.CO;2-W [pii]
AID - 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU18>3.0.CO;2-W [doi]
PST - ppublish
SO  - Hum Mutat. 1998;12(1):72. doi:
      10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU18>3.0.CO;2-W.