RecQ-mediated genome instability protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''RMI1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Genetic disorders
Mutations in RMI1 are associated with
Bloom-Syndrome like disorder. Two patients, both with
microcephalic dwarfism came from the same family. They carried identical heterozygous mutations:
255_1259del 55 may refer to:
*55 (number)
*55 BC
*AD 55
*1955
* 2055
Science
*Caesium, by the element's atomic number
Astronomy
*Messier object M55, a magnitude 7.0 globular cluster in the constellation Sagittarius
*The New General Catalogue object NGC 55, ...
Lys419LeufsTer5].
Function
RMI1 protein is a component of the Bloom Syndrome Complex. RMI1 protein is made up of 2 OB (oligonucleotide binding) domains. OB1 binds to
TOP3A, Topoisomerase III alpha,
while OB2 binds to RMI2 within the Bloom Syndrome complex, and
FANCM of the Fanconi Anaemia pathway.
An insert within OB1 domain of RMI1 inserts into the catalytic centre of Topoisomerase III alpha, and is necessary for the optimal activity of this enzyme during cellular DNA repair and homologous recombination.
Meiosis
During
meiosis
Meiosis (; , since it is a reductional division) is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, such as sperm or egg cells. It involves two rounds of division that ultimately ...
in budding yeast ''
Saccharomyces cerevisiae
''Saccharomyces cerevisiae'' () (brewer's yeast or baker's yeast) is a species of yeast (single-celled fungus microorganisms). The species has been instrumental in winemaking, baking, and brewing since ancient times. It is believed to have been o ...
'',
TOP3 (a
type I topoisomerase) and its accessory factor RMI1 form a
heterodimer that functions to allow passage of one DNA single strand through another. The TOP3-RMI1 heterodimer associates with
Sgs1 (
Bloom helicase ortholog) to form a complex that catalyzes dissolution of double
Holliday junctions.
Furthermore, the TOP3-RMI1 heterodimer participates in all meiotic recombination functions associated with
Sgs1, most significantly as an early recombination intermediate chaperone, promoting regulated
crossover and
non-crossover recombination and preventing accumulation of aberrant recombination intermediates.
In particular, the TOP3-RMI1–SGS1 complex promotes early formation of non-crossover recombinants during meiosis.
References
Further reading
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