PMID- 11903229
OWN - NLM
STAT- MEDLINE
DCOM- 20020423
LR  - 20201214
IS  - 0007-0963 (Print)
IS  - 0007-0963 (Linking)
VI  - 146
IP  - 2
DP  - 2002 Feb
TI  - Human Ro60 (SSA2) genomic organization and sequence alterations, examined in 
      cutaneous lupus erythematosus.
PG  - 210-5
AB  - BACKGROUND: The Ro 60 kDa protein (Ro60 or SSA2) is the major component of the Ro 
      ribonucleoprotein (Ro RNP) complex, to which an immune response is a specific 
      feature of several autoimmune diseases. The genomic organization and any sequence 
      variation within the DNA encoding Ro60 are unknown. OBJECTIVES: To characterize 
      the Ro60 gene structure and to assess whether any sequence alterations might be 
      associated with serum anti-Ro antibody in subacute cutaneous lupus erythematosus 
      (SCLE), thus potentially providing new insight into disease pathogenesis. 
      METHODS: The cDNA sequence for Ro60 was obtained from the NCBI database and used 
      for a BLAST search for a clone containing the entire genomic sequence. The 
      intron-exon borders were confirmed by designing intronic primer pairs to flank 
      each exon, which were then used to amplify genomic DNA for automated sequencing 
      from 36 caucasian patients with SCLE (anti-Ro positive) and 49 with discoid LE 
      (DLE, anti-Ro negative), in addition to 36 healthy caucasian controls. RESULTS: 
      Heteroduplex analysis of polymerase chain reaction (PCR) products from patients 
      and controls spanning all Ro60 exons (1-8) revealed a common bandshift in the PCR 
      products spanning exon 7. Sequencing of the corresponding PCR products 
      demonstrated an A > G substitution at nucleotide position 1318-7, within the 
      consensus acceptor splice site of exon 7 (GenBank XM001901). The allele 
      frequencies were major allele A (0.71) and minor allele G (0.29) in 72 control 
      chromosomes, with no significant differences found between SCLE patients, DLE 
      patients and controls. CONCLUSIONS: The genomic organization of the DNA encoding 
      the Ro60 protein is described, including a common polymorphism within the 
      consensus acceptor splice site of exon 7. Our delineation of a strategy for the 
      genomic amplification of Ro60 forms a basis for further examination of the 
      pathological functions of the Ro RNP in autoimmune disease.
FAU - Millard, T P
AU  - Millard TP
AD  - Department of Photobiology, Guy's, King's and St Thomas' School of Medicine, St 
      Thomas' Hospital, London SE1 7EH, UK. thomas.millard@kcl.ac.uk
FAU - Ashton, G H S
AU  - Ashton GH
FAU - Kondeatis, E
AU  - Kondeatis E
FAU - Vaughan, R W
AU  - Vaughan RW
FAU - Hughes, G R V
AU  - Hughes GR
FAU - Khamashta, M A
AU  - Khamashta MA
FAU - Hawk, J L M
AU  - Hawk JL
FAU - McGregor, J M
AU  - McGregor JM
FAU - McGrath, J A
AU  - McGrath JA
LA  - eng
SI  - RefSeq/XM_001901
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Dermatol
JT  - The British journal of dermatology
JID - 0004041
RN  - 0 (Antibodies, Antinuclear)
RN  - 0 (Autoantigens)
RN  - 0 (RNA, Small Cytoplasmic)
RN  - 0 (RO60 protein, human)
RN  - 0 (Ribonucleoproteins)
SB  - IM
MH  - Antibodies, Antinuclear/blood
MH  - Autoantigens/*genetics/immunology
MH  - Base Sequence
MH  - Gene Frequency
MH  - Genomics
MH  - Heteroduplex Analysis
MH  - Humans
MH  - Lupus Erythematosus, Cutaneous/*genetics/immunology
MH  - Lupus Erythematosus, Discoid/*genetics/immunology
MH  - Molecular Sequence Data
MH  - Polymorphism, Single Nucleotide
MH  - *RNA, Small Cytoplasmic
MH  - Ribonucleoproteins/*genetics/immunology
MH  - Sequence Analysis, DNA
EDAT- 2002/03/21 10:00
MHDA- 2002/04/24 10:01
CRDT- 2002/03/21 10:00
PHST- 2002/03/21 10:00 [pubmed]
PHST- 2002/04/24 10:01 [medline]
PHST- 2002/03/21 10:00 [entrez]
AID - 4618 [pii]
AID - 10.1046/j.1365-2133.2002.04618.x [doi]
PST - ppublish
SO  - Br J Dermatol. 2002 Feb;146(2):210-5. doi: 10.1046/j.1365-2133.2002.04618.x.