PMID- 10467273
OWN - NLM
STAT- MEDLINE
DCOM- 19990930
LR  - 20071114
IS  - 0361-8609 (Print)
IS  - 0361-8609 (Linking)
VI  - 62
IP  - 1
DP  - 1999 Sep
TI  - Molecular basis for Rh(null) syndrome: identification of three new missense
      mutations in the Rh50 glycoprotein gene.
PG  - 25-32
AB  - Rh(null) is a rare autosomal recessive disorder characterized by an absence of Rh
      antigens and a varying degree of hemolytic anemia and spherostomatocytosis. We
      report studies of two Japanese Rh(null) cases and describe three new missense
      mutations of RHAG, the locus that encodes Rh50 glycoprotein and modulates Rh
      antigen expression. In Rh(null)(HT), RHAG harbored in exon 6 two G-->A
      transitions, GTT-->ATT and GGA-->AGA, which cause Val(270)-->Ile and
      Gly(280)-->Arg substitutions, respectively. These missense mutations were
      cotransmitted from the propositus to the children and were predicted to reside in
      endoloop 5 and transmembrane (TM) segment 9, respectively. In Rh(null)(WO), RHAG 
      contained in exon 9 a single G-->T transversion, GGT-->GTT, which caused a
      Gly(380)-->Val missense change in TM12 segment. The G-->T transversion, which is 
      located at the +1 position of exon 9, had also affected pre-mRNA splicing and
      caused partial exon skipping. Although both Rh(null) cases had a structurally
      normal RH antigen locus, hemagglutination and immunoblotting showed no expression
      of Rh antigens or proteins. These results correlate each mutation with a
      structural defect in the respective TM domain of Rh50 glycoprotein.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Huang, C H
AU  - Huang CH
AD  - Laboratory of Biochemistry and Molecular Genetics, Lindsley F. Kimball Research
      Institute, New York Blood Center, New York, New York 10021, USA. chuang@nybc.org
FAU - Cheng, G
AU  - Cheng G
FAU - Liu, Z
AU  - Liu Z
FAU - Chen, Y
AU  - Chen Y
FAU - Reid, M E
AU  - Reid ME
FAU - Halverson, G
AU  - Halverson G
FAU - Okubo, Y
AU  - Okubo Y
LA  - eng
SI  - GENBANK/AF179682
SI  - GENBANK/AF179683
SI  - GENBANK/AF179684
SI  - GENBANK/AF179685
SI  - GENBANK/AF179686
GR  - HL54459/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hematol
JT  - American journal of hematology
JID - 7610369
RN  - 0 (Blood Proteins)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (RHAG protein, human)
RN  - 0 (RNA Precursors)
RN  - 0 (Rh-Hr Blood-Group System)
SB  - IM
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Blood Proteins/*genetics
MH  - Exons/genetics
MH  - Glycoproteins/*genetics
MH  - Humans
MH  - *Membrane Glycoproteins
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - RNA Precursors/genetics
MH  - RNA Splicing
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Rh-Hr Blood-Group System/*genetics
EDAT- 1999/09/01 00:00
MHDA- 1999/09/01 00:01
CRDT- 1999/09/01 00:00
PHST- 1999/09/01 00:00 [pubmed]
PHST- 1999/09/01 00:01 [medline]
PHST- 1999/09/01 00:00 [entrez]
AID - 10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO;2-K [pii]
PST - ppublish
SO  - Am J Hematol. 1999 Sep;62(1):25-32.