RecLOH
Encyclopedia
RecLOH is a term in genetics
that is an abbreviation for "Recombination
al Loss of Heterozygosity".
This is a type of mutation
which occurs with DNA
by recombination
. From a pair of equivalent ("homologous"), but slightly different (heterozygous) genes, a pair of identical genes results. In this case there is an unreciprocal exchange of genetic code between the chromosomes, in contrast to chromosomal crossover
, because genetic information is lost.
, the term is used particularly concerning similar seeming events in Y chromosome
DNA. This type of mutation happens within one chromosome, and does not involve a reciprocal transfer. Rather, one homologous segment "writes over" the other. The mechanism is presumed to be different from RecLOH events in autosomal chromosomes
, since the target is the very same chromosome instead of the homologous one.
During the mutation one of these copies overwrites the other. Thus the differences between the two are lost. Because differences are lost, heterozygosity is lost.
Recombination on the Y-chromosome
does not only take place during meiosis
, but virtually at every mitosis
when the Y chromosome condenses, because it doesn't require pairing between chromosomes. Recombination frequency even exceeds the frame shift mutation frequency (slipped strand mispairing
) of (average fast) Y-STR
s, however many recombination products may lead to infertile germ cells and "daughter out".
Recombination events (RecLOH) can be observed if YSTR databases are searched for twin alleles at 3 or more duplicated markers on the same palindrome (hairpin).
E.g. DYS459, DYS464 and DYS724 (CDY) are located on the same palindrome P1. A high proportion of 9-9, 15-15-17-17, 36-36 combinations and similar twin allelic patterns will be found. PCR typing technologies have been developed (e.g. DYS464X) that are able to verify that there are most frequently really two alleles of each, so we can be sure that there is no gene deletion
. Family genealogies have proven many times, that parallel changes on all markers located on the same palindrome are frequently observed and the result of those changes are always twin alleles. So a 9-10, 15-16-17-17, 36-38 haplotype can change in one recombination event to the one mentioned above, because all three markers (DYS459, DYS464 and DYS724) are affected by one and the same recLOH event.
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
that is an abbreviation for "Recombination
Genetic recombination
Genetic recombination is a process by which a molecule of nucleic acid is broken and then joined to a different one. Recombination can occur between similar molecules of DNA, as in homologous recombination, or dissimilar molecules, as in non-homologous end joining. Recombination is a common method...
al Loss of Heterozygosity".
This is a type of mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
which occurs with DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
by recombination
Genetic recombination
Genetic recombination is a process by which a molecule of nucleic acid is broken and then joined to a different one. Recombination can occur between similar molecules of DNA, as in homologous recombination, or dissimilar molecules, as in non-homologous end joining. Recombination is a common method...
. From a pair of equivalent ("homologous"), but slightly different (heterozygous) genes, a pair of identical genes results. In this case there is an unreciprocal exchange of genetic code between the chromosomes, in contrast to chromosomal crossover
Chromosomal crossover
Chromosomal crossover is an exchange of genetic material between homologous chromosomes. It is one of the final phases of genetic recombination, which occurs during prophase I of meiosis in a process called synapsis. Synapsis begins before the synaptonemal complex develops, and is not completed...
, because genetic information is lost.
For Y chromosome
In genetic genealogyGenetic genealogy
Genetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
, the term is used particularly concerning similar seeming events in Y chromosome
Y chromosome
The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs...
DNA. This type of mutation happens within one chromosome, and does not involve a reciprocal transfer. Rather, one homologous segment "writes over" the other. The mechanism is presumed to be different from RecLOH events in autosomal chromosomes
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
, since the target is the very same chromosome instead of the homologous one.
During the mutation one of these copies overwrites the other. Thus the differences between the two are lost. Because differences are lost, heterozygosity is lost.
Recombination on the Y-chromosome
Y chromosome
The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs...
does not only take place during meiosis
Meiosis
Meiosis is a special type of cell division necessary for sexual reproduction. The cells produced by meiosis are gametes or spores. The animals' gametes are called sperm and egg cells....
, but virtually at every mitosis
Mitosis
Mitosis is the process by which a eukaryotic cell separates the chromosomes in its cell nucleus into two identical sets, in two separate nuclei. It is generally followed immediately by cytokinesis, which divides the nuclei, cytoplasm, organelles and cell membrane into two cells containing roughly...
when the Y chromosome condenses, because it doesn't require pairing between chromosomes. Recombination frequency even exceeds the frame shift mutation frequency (slipped strand mispairing
Slipped strand mispairing
Slipped strand mispairing is a mutation process which occurs during DNA replication. It involves denaturation and displacement of the DNA strands, resulting in mispairing of the complementary bases. Slipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences...
) of (average fast) Y-STR
Y-STR
A Y-STR is a short tandem repeat on the Y-chromosome. Y-STRs are often used in forensics, paternity, and genealogical DNA testing.-Nomenclature:Y-STRs are assigned names by the HUGO gene nomenclature committee....
s, however many recombination products may lead to infertile germ cells and "daughter out".
Recombination events (RecLOH) can be observed if YSTR databases are searched for twin alleles at 3 or more duplicated markers on the same palindrome (hairpin).
E.g. DYS459, DYS464 and DYS724 (CDY) are located on the same palindrome P1. A high proportion of 9-9, 15-15-17-17, 36-36 combinations and similar twin allelic patterns will be found. PCR typing technologies have been developed (e.g. DYS464X) that are able to verify that there are most frequently really two alleles of each, so we can be sure that there is no gene deletion
Genetic deletion
In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome...
. Family genealogies have proven many times, that parallel changes on all markers located on the same palindrome are frequently observed and the result of those changes are always twin alleles. So a 9-10, 15-16-17-17, 36-38 haplotype can change in one recombination event to the one mentioned above, because all three markers (DYS459, DYS464 and DYS724) are affected by one and the same recLOH event.