The effects of uniparental disomy
involving other chromosomes are mostly unknown.
Not exact matches
«There are a score of medical syndromes
involving chromosome rearrangements,» says O'Brien, and there may be
others not yet discovered.
The study
involved Y
chromosomes obtained through the Human Genome Diversity Project, and from
other sources.
They have detected, for example, revved up signaling molecules
involved in inflammation, such as tumor necrosis factor α (TNFα) and
other cytokines; skewed populations of natural killer cells and
other immune cells; imbalances in the protein - destroying enzymes called proteases; and a shortening of the telomeres, the «end caps» on
chromosomes, which indicates prematurely aged cells.
«The old textbook description says that once maleness is determined by a few Y
chromosome genes and you have gonads, all
other sex differences stem from there,» says geneticist Andrew Clark of Cornell University, who was not
involved in either study.
Other Chinese groups had previously reported editing human embryos that could not develop into a baby because they carried extra
chromosomes, but this is the first report
involving viable embryos (SN Online: 4/8/16; SN Online: 4/23/15).
Other medical sequencing projects will use DNA sequencing to: discover new genes that are
involved in common diseases; identify the genes responsible for dozens of relatively rare, single - gene (autosomal Mendelian) diseases; sequence all of the genes on the X
chromosome from affected individuals to identify those
involved in sex - linked diseases; and survey the range of variants in genes known to contribute to certain common diseases.
Once broken, it can reconnect with any of more than 40
other genes in a translocation, a process that
involves an exchange of DNA between two
chromosomes.