Holoprosencephaly is a highly variable condition in mammals, including humans. I
ID: 63614 • Letter: H
Question
Holoprosencephaly is a highly variable condition in mammals, including humans. Its effects range from an absence of brain areas, mid-face disorders, and cyclopia to slight dental abnormalities. One form, HPE3, is caused by Shh mutations. Familial cases are inherited as dominants. Which of the following do you expect? Holoprosencephaly is a highly variable condition in mammals, including humans. Its effects range from an absence of brain areas, mid-face disorders, and cyclopia to slight dental abnormalities. One form, HPE3, is caused by Shh mutations. Familial cases are inherited as dominants. Which of the following do you expect?
A.) HPE3 is actually a multigene complex.
B.) All mutations in Shh that result in HPE3 are due to frameshifts.
C.) HPE3 individuals also share a common environmental exposure.
D.) HPE3 expression is modified by genetic background.
E.) Each type of malformation is due to a different HPE3 allele.
Explanation / Answer
Answer: HPE3 expression is modified by genetic background.
HPE3 is caused by Shh mutation and it is inherited as a dominant character. Hence, HPE3 is regulated and modified by genetic background.
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