FSHD1 contraction is located on which chromosome region?

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Multiple Choice

FSHD1 contraction is located on which chromosome region?

Explanation:
FSHD1 contraction localizes to the subtelomeric D4Z4 repeat array on chromosome 4 at region 4q35. In affected individuals, this D4Z4 array shortens from its normal length to a small number of repeats; this contraction must occur on a permissive 4qA haplotype that provides a polyadenylation signal to stabilize the DUX4 transcript. When DUX4 is inappropriately expressed in muscle, it drives the pathogenic changes seen in facioscapulohumeral muscular dystrophy. The other chromosome regions listed are not the disease locus, so they don’t account for FSHD1.

FSHD1 contraction localizes to the subtelomeric D4Z4 repeat array on chromosome 4 at region 4q35. In affected individuals, this D4Z4 array shortens from its normal length to a small number of repeats; this contraction must occur on a permissive 4qA haplotype that provides a polyadenylation signal to stabilize the DUX4 transcript. When DUX4 is inappropriately expressed in muscle, it drives the pathogenic changes seen in facioscapulohumeral muscular dystrophy. The other chromosome regions listed are not the disease locus, so they don’t account for FSHD1.

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