Cornelia de Lange syndrome (CdLS) is a rare humandisease caused by a dominant loss-of-function mutation in any one of at least five different genes, all ofwhich encode components or regulators of the cohesin protein complex. People with CdLS have a widerange of morphological abnormalities, growth retardation, and mental impairment. Analysis of CdLS patients shows that in addition to chromosomalmis-segregation during cell division, their abnormalphenotype is likely due to widespread mis-regulationof gene expression during development. Cohesin mayplay a role in organizing chromatin loops necessaryfor proper regulation of transcription. (You will learnmore about this topic in Chapter 17.)a. In different families, CdLS can show an autosomaldominant or X-linked dominant inheritance pattern. How is this possible?b. Explain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to itswild-type counterpart.c. CdLS is usually caused by new mutation in oneparent’s gamete. Why?
Cornelia de Lange syndrome (CdLS) is a rare human
disease caused by a dominant loss-of-function mutation in any one of at least five different genes, all of
which encode components or regulators of the cohesin protein complex. People with CdLS have a wide
range of morphological abnormalities, growth retardation, and mental impairment. Analysis of CdLS patients shows that in addition to chromosomal
mis-segregation during cell division, their abnormal
of gene expression during development. Cohesin may
play a role in organizing chromatin loops necessary
for proper regulation of transcription. (You will learn
more about this topic in Chapter 17.)
a. In different families, CdLS can show an autosomal
dominant or X-linked dominant inheritance pattern. How is this possible?
b. Explain how a loss-of-function allele in a gene encoding a cohesin protein could be dominant to its
wild-type counterpart.
c. CdLS is usually caused by new mutation in one
parent’s gamete. Why?
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