
Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer
النسخة 9الرقم المعياري الدولي: 978-1292108865
Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer
النسخة 9الرقم المعياري الدولي: 978-1292108865 تمرين 1
One foot or another
In humans the HOXD homeotic gene cluster plays a critical role in limb development. In one large family, 16 of 36 members expressed one of two dominantly inherited malformations of the feet known as rocker bottom foot (CVT) or claw foot (CMT). One individual had one foot with CVT and the other with CMT. Genomic analysis identified a single missense mutation in the HOXD10 gene, resulting in a single amino acid substitution in the homeodomain of the encoded transcription factor. This region is crucial for making contact and binding to the target genes controlled by this protein. All family members with the foot malformations were heterozygotes; all unaffected members were homozygous for the normal allele.
Given that affected heterozygotes carry one normal allele of the HOXD10 gene, how might a dominant mutation in a gene encoding a transcription factor lead to a developmental malformation?
In humans the HOXD homeotic gene cluster plays a critical role in limb development. In one large family, 16 of 36 members expressed one of two dominantly inherited malformations of the feet known as rocker bottom foot (CVT) or claw foot (CMT). One individual had one foot with CVT and the other with CMT. Genomic analysis identified a single missense mutation in the HOXD10 gene, resulting in a single amino acid substitution in the homeodomain of the encoded transcription factor. This region is crucial for making contact and binding to the target genes controlled by this protein. All family members with the foot malformations were heterozygotes; all unaffected members were homozygous for the normal allele.
Given that affected heterozygotes carry one normal allele of the HOXD10 gene, how might a dominant mutation in a gene encoding a transcription factor lead to a developmental malformation?
التوضيح
Congenital Vertical talus (CVT) commonly...
Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer
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