what would occur if Sox9 was mutated?

Expert Solution

Mutations in the SOX9 gene, which lead to severe developmental changes and to the genetic disorder known as campomelic dysplasia. The disorder leads to changes in the bones and also in the sex determination. It is lethal in the neonatal period due to respiratory problems.

Mutations in Sox9 genes cause reversal of sex and hermaphroditism. If Fgf9, which is activated by Sox9, is not present, a fetus with both X and Y chromosomes can develop female gonads. The related event of hermaphroditism can be caused by unusual activity of the SRY. I occurs usually when it is translocated onto the X-chromosome and its activity is only activated in some cells.

gladiator answered 2 years ago

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