<span>Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic reticulum) and the other in the nucleus. To date, all documented disease mutations, including the knockout mouse model deletion, have been in the segment of the protein common to both isoforms. It is therefore not known whether dysfunction of the cytoplasmic, nuclear, or both isoforms leads to the disease. In the present work, we identify six novel mutations, one of which, c.950insT (Q319fs), is the first mutation specific to the cytoplasmic laforin isoform, implicating this isoform in disease pathogenesis. To confirm this mutation's deleterious effect on laforin, we studied the resultant protein's subcellular localization and function and show a drastic reduction in its phosphatase activity, despite maintenance of its location at the endoplasmic reticulum.
I got my information from </span>https://www.ncbi.nlm.nih.gov/pubmed/14722920
C as far as I know. Hope this helps!
False. A person cannot become a problem drinker by drinking beer.
Answer:
E I think is the correct answer but in not 100% positive
Explanation:
The answers would be:
Genotype Phenotype
Tt Tall stemmed
tt Short stemmed
Genotypic ratio : 2:2 or 1:1
Phenotypic ratio: 2:2 or 1:1
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<u>You can read on to see how this was done:</u>
Tall stems (T) are dominant to short stems (t).
First figure out the genotypes of the parents. We have a short-stemmed plant and a heterozygous long-stemmed plant cross.
For short stem to occur, you need 2 pairs of short alleles. So the first parent would have a genotype of tt.
Heterozygous long-stemmed means that the parent has one of each allele. So the genotype of the second parent would be, Tt.
Now we can make our Punnett Square.
tt x Tt
<u> t t </u>
<u>T | Tt | Tt</u>
<u>t | tt | tt</u>
Let's list down the genotypes and phenotypic results.
Genotype no. Phenotype
Tt 2 Tall stemmed
tt 2 Short stemmed
So from that we can answer the other questions:
Genotypic ratio : 2:2 or 1:1
Phenotypic ratio: 2:2 or 1:1
