PMID- 10652259
OWN - NLM
STAT- MEDLINE
DCOM- 20000412
LR  - 20191210
IS  - 0021-9533 (Print)
IS  - 0021-9533 (Linking)
VI  - 113 ( Pt 4)
DP  - 2000 Feb
TI  - Expression and nuclear localization of BLM, a chromosome stability protein
      mutated in Bloom's syndrome, suggest a role in recombination during meiotic
      prophase.
PG  - 663-72
AB  - Bloom's syndrome (BS) is a recessive human genetic disorder characterized by
      short stature, immunodeficiency and elevated risk of malignancy. BS cells have
      genomic instability and an increased frequency of sister chromatid exchange. The 
      gene mutated in BS, BLM, encodes a 3'-5' helicase (BLM) with homology to
      bacterial recombination factor, RecQ. Human males homozygous for BLM mutations
      are infertile and heterozygous individuals display increased frequencies of
      structural chromosome abnormalities in their spermatozoa. Also, mutations in the 
      Saccharomyces cerevisiae homolog of BLM, Sgs1, cause a delay in meiotic nuclear
      division and a reduction in spore viability. These observations suggest that BLM 
      may play a role during meiosis. Our antibodies raised against the C terminus of
      the human protein specifically recognize both mouse and human BLM in western
      blots of cell lines and in successive developmental stages of spermatocytes, but 
      fail to detect BLM protein in a cell line with a C-terminally truncated protein. 
      BLM protein expression and location are detected by immunofluorescence and
      immunoelectron microscopy as discrete foci that are sparsely present on early
      meiotic prophase chromosome cores, later found abundantly on synapsed cores,
      frequently in combination with the recombinases RAD51 and DMC1, and eventually as
      pure BLM foci. The colocalization of RAD51/DMC1 with BLM and the statistically
      significant excess of BLM signals in the synapsed pseudoautosomal region of the
      X-Y chromosomes, which is a recombinational hot spot, provide indications that
      BLM protein may function in the meiotic recombination process.
FAU - Moens, P B
AU  - Moens PB
AD  - Department of Biology, York University, Toronto, Ontario, M3J 1P3, Canada.
      moens@yorku.ca
FAU - Freire, R
AU  - Freire R
FAU - Tarsounas, M
AU  - Tarsounas M
FAU - Spyropoulos, B
AU  - Spyropoulos B
FAU - Jackson, S P
AU  - Jackson SP
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Cell Sci
JT  - Journal of cell science
JID - 0052457
RN  - 0 (Antibodies)
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DMC1 protein, S cerevisiae)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Dmc1 protein, mouse)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Phosphate-Binding Proteins)
RN  - 0 (Saccharomyces cerevisiae Proteins)
RN  - EC 2.7.7.- (RAD51 protein, human)
RN  - EC 2.7.7.- (Rad51 Recombinase)
RN  - EC 2.7.7.- (Rad51 protein, mouse)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 3.6.1.- (Bloom syndrome protein)
RN  - EC 3.6.1.- (DMC1 protein, human)
RN  - EC 3.6.1.- (RECQL protein, human)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - EC 3.6.4.12 (RecQ Helicases)
SB  - IM
MH  - Adenosine Triphosphatases/analysis/*genetics/immunology/metabolism
MH  - Animals
MH  - Antibodies
MH  - Bloom Syndrome/*genetics
MH  - *Cell Cycle Proteins
MH  - Cell Nucleus/chemistry/enzymology/ultrastructure
MH  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - DNA Helicases/analysis/*genetics/immunology/metabolism
MH  - DNA-Binding Proteins/analysis/metabolism
MH  - Fluorescent Antibody Technique
MH  - Gene Expression/physiology
MH  - Humans
MH  - Male
MH  - Mice
MH  - Microscopy, Immunoelectron
MH  - Nuclear Proteins
MH  - Phosphate-Binding Proteins
MH  - Prophase/physiology
MH  - Rabbits
MH  - Rad51 Recombinase
MH  - RecQ Helicases
MH  - Recombination, Genetic/*physiology
MH  - Saccharomyces cerevisiae Proteins
MH  - Spermatogenesis/genetics
MH  - Synaptonemal Complex/*physiology
MH  - Testis/cytology
EDAT- 2000/02/01 09:00
MHDA- 2000/04/15 09:00
CRDT- 2000/02/01 09:00
PHST- 2000/02/01 09:00 [pubmed]
PHST- 2000/04/15 09:00 [medline]
PHST- 2000/02/01 09:00 [entrez]
PST - ppublish
SO  - J Cell Sci. 2000 Feb;113 ( Pt 4):663-72.