Missing Genes in People

People may not be affected from having missing genes. Recent studies have shown that British people of Pakistani decent have on average 140 genes that have stopped working due to a mutation.  The mutation affects a part of the genome that encodes for proteins. A total of 781 genes were rendered useless without the appropriate sequence of the proteins. Originally, scientists believed 422 of these genes were needed for humans to have a healthy life. However, these people seem to be unaffected by the loss of genes.

This extremely interesting because previous studies have shown that even with mutated genes people can living healthy lives. This is likely do to a gene having multiple copies. Now, even if a rare mutation causes multiple parts of gene to be disabled, people can live healthy lives too. This most likely results from a repair mechanism to compensate from the missing genes.

An example is the PRDM9 gene in women, which is important to the formation of eggs. In mice, if a female has a mutation with the PRDM9 gene, it results in infertility. However, both dogs and people have a “fallback” mechanism that compensates from loosing the gene.  In other words, women with the PRDM9 gene missing can still have children with no problems. Therefore, mechanisms must repair and or compensate for missing genes in people.

Original Source: https://www.sciencenews.org/article/missing-genes-not-always-problem-people

Additional Readings: http://www.sciencemag.org/news/2012/02/case-missing-genes