The rapid pace of morphological evolution noted by Darwin along with Thompson's observations of topological conservation are not easily reconciled with the rates at which
point mutations occur or with the sensitivity of complex organisms and their proteins to random point mutations.
However, most
point mutations occur at low frequency, and the function of these alleles remains undefined.
Not exact matches
Although the disease appears to be caused by a genetic defect, it doesn't run in families, suggesting that the
mutation occurs randomly in egg or sperm cells or at some
point after fertilization.
Some critics questioned the
mutation rate the authors applied, and others noted that the sharp decline could have
occurred eons ago — a
point Roman and Palumbi don't dispute.
Verma is quick to
point out that although there have been two case studies in which BRCA1
mutations were linked to brain abnormalities, the dramatic effects documented in the mice in the study are unlikely to
occur in women with a BRCA1
mutation, who still have some functioning BRCA1, compared with the mice who had none at all.
To develop their approach, the team leveraged known
point mutations that
occur in bacterial enzymes, providing pathogens with resistance to antibiotics.
Naturally
occurring inactivating
mutations in genes in humans represents a powerful entry
point into this uncharacterized biology.