PMID- 10556313
OWN - NLM
STAT- MEDLINE
DCOM- 20000114
LR  - 20190501
IS  - 0305-1048 (Print)
IS  - 0305-1048 (Linking)
VI  - 27
IP  - 23
DP  - 1999 Dec 1
TI  - Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN
      loci.
PG  - 4577-84
AB  - The human small nuclear ribonucleoprotein SNRPB ' /B gene is alternatively
      spliced to produce the SmB or SmB' spliceosomal core proteins. An ancestral
      duplication gave rise to the closely related SNRPN paralog whose protein product,
      SmN, replaces SmB'/B in brain. However, the precise evolutionary and functional
      relationship between these loci has not been clear. Genomic, cDNA and protein
      analyses presented here in chicken, two marsupials (South American opossum and
      tammar wallaby), and hedgehog, suggest that the vertebrate ancestral locus
      produced the SmB' isoform. Interestingly, three eutherians exhibit radically
      distinct splice choice expression profiles, producing either exclusively SmB in
      mouse, both SmB and SmB' in human, or exclusively SmB' in hedgehog. The human
      SNRPB ' /B locus is biallelically unmethylated, unlike the imprinted SNRPN locus 
      which is unmethyl-ated only on the expressed paternal allele. Western analysis
      demonstrates that a compensatory feedback loop dramatically upregulates SmB'/B
      levels in response to the loss of SmN in Prader-Willi syndrome brain tissue,
      potentially reducing the phenotypic severity of this syndrome. These findings
      imply that these two genes encoding small nuclear ribonucleoprotein components
      are subject to dosage compensation. Therefore, a more global regulatory network
      may govern the maintenance of stoichiometric levels of spliceosomal components
      and may constrain their evolution.
FAU - Gray, T A
AU  - Gray TA
AD  - Department of Genetics, Case Western Reserve University School of Medicine,
      University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106-4955,
      USA,
FAU - Smithwick, M J
AU  - Smithwick MJ
FAU - Schaldach, M A
AU  - Schaldach MA
FAU - Martone, D L
AU  - Martone DL
FAU - Graves, J A
AU  - Graves JA
FAU - McCarrey, J R
AU  - McCarrey JR
FAU - Nicholls, R D
AU  - Nicholls RD
LA  - eng
SI  - GENBANK/AF176323
SI  - GENBANK/AF176324
SI  - GENBANK/AF176325
SI  - GENBANK/AF176326
SI  - GENBANK/AH009162
GR  - GM18306/GM/NIGMS NIH HHS/United States
GR  - HD31491/HD/NICHD NIH HHS/United States
GR  - HD36079/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Nucleic Acids Res
JT  - Nucleic acids research
JID - 0411011
RN  - 0 (Autoantigens)
RN  - 0 (DNA, Complementary)
RN  - 0 (Ribonucleoproteins, Small Nuclear)
RN  - 0 (SNRPB protein, human)
RN  - 0 (SNRPN protein, human)
RN  - 0 (Snrpb protein, mouse)
RN  - 0 (snRNP Core Proteins)
SB  - IM
MH  - Alternative Splicing
MH  - Amino Acid Sequence
MH  - Animals
MH  - Autoantigens/*genetics
MH  - Base Sequence
MH  - DNA, Complementary
MH  - *Evolution, Molecular
MH  - Exons
MH  - *Gene Duplication
MH  - Humans
MH  - Introns
MH  - Molecular Sequence Data
MH  - Promoter Regions, Genetic
MH  - *Ribonucleoproteins, Small Nuclear
MH  - Sequence Homology, Amino Acid
MH  - snRNP Core Proteins
PMC - PMC148745
EDAT- 1999/11/11 00:00
MHDA- 1999/11/11 00:01
CRDT- 1999/11/11 00:00
PHST- 1999/11/11 00:00 [pubmed]
PHST- 1999/11/11 00:01 [medline]
PHST- 1999/11/11 00:00 [entrez]
AID - gkc676 [pii]
AID - 10.1093/nar/27.23.4577 [doi]
PST - ppublish
SO  - Nucleic Acids Res. 1999 Dec 1;27(23):4577-84. doi: 10.1093/nar/27.23.4577.