At the end of the short arm of human chromosome 16 (16p), several genes associated with disease are present, including thalassemia and polycystic kidney disease. When that region of chromosome 16 was sequenced, gene-coding regions were found to be very close to the telomere-associated sequences. Could there be a possible link between the location of these genes and the presence of the telomere-associated sequences? What further information concerning the disease genes would be useful in your analysis?

Telomeres are found at the ends of eukaryotic chromosomes. Why is telomerase usually active in germ-line cells but not in somatic cells?

Telomeres are found at the ends of eukaryotic chromosomes. What is the functional role of telomeres?

Telomeres are found at the ends of eukaryotic chromosomes. How does telomerase assemble telomeres?

Telomeres are found at the ends of eukaryotic chromosomes. What is the sequence composition of telomeres?

Go to the OMIM website (https://www.ncbi.nlm.nih.gov/omim) and type 'dyskeratosis congenita autosomal dominant 1' (DKCA1) into the search bar. The result will include a clickable link to the disorder that has an OMIM number of 127550. Review the OMIM information you retrieve and notice that this disorder is caused by a mutation of a telomerase gene that results in abnormally rapid shortening of telomeres and the appearance of disease symptoms at progressively younger ages in successive generations of the affected families. Use this and other information on OMIM to assist with this problem. Go to reference number 15 at the bottom of the OMIM page for a link to a 2004 paper by Tom Vulliamy and colleagues that appeared in the journal Nature Genetics. Click on the 'Full text' option and download a copy of the paper. Look at Table 1 of the paper on page 448. This table lists the lengths of telomeres measured in members of the families in this study. Telomeres shorten with age, and the telomere lengths in Table 1 are age-adjusted. The negative numbers for telomere lengths in the table indicate that telomeres are shorter than average for age, and the more negative the number, the shorter the telomere. Based on Table 1, the discussion in the Vulliamy et al. (2004) paper, and information available on OMIM, answer the following:

How do telomere lengths in children compare with telomere lengths of their parents?

Go to the OMIM website (https://www.ncbi.nlm.nih.gov/omim) and type 'dyskeratosis congenita autosomal dominant 1' (DKCA1) into the search bar. The result will include a clickable link to the disorder that has an OMIM number of 127550. Review the OMIM information you retrieve and notice that this disorder is caused by a mutation of a telomerase gene that results in abnormally rapid shortening of telomeres and the appearance of disease symptoms at progressively younger ages in successive generations of the affected families. Use this and other information on OMIM to assist with this problem. Go to reference number 15 at the bottom of the OMIM page for a link to a 2004 paper by Tom Vulliamy and colleagues that appeared in the journal Nature Genetics. Click on the 'Full text' option and download a copy of the paper. Look at Table 1 of the paper on page 448. This table lists the lengths of telomeres measured in members of the families in this study. Telomeres shorten with age, and the telomere lengths in Table 1 are age-adjusted. The negative numbers for telomere lengths in the table indicate that telomeres are shorter than average for age, and the more negative the number, the shorter the telomere. Based on Table 1, the the discussion in the Vulliamy et al. (2004) paper, and information available on OMIM, answer the following:

Why are telomeres of people with DKCA1 shorter than average?