Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.

Ferdinando SquitieriTommaso MazzaSabrina MaffiAlessandro De LucaQasem AlSalmiSalma AlHarasiJennifer A CollinsChris KayFiona Baine-SavanhuBernard G LandwhermeyerUmberto SabatiniMichael R Hayden

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Mutated HTT spread into Middle East with a unique haplotype of African origin, appeared to be associated with juvenile-onset, a HD condition frequently occurring in Black Africans, and may have a significant impact on further development of novel targeted genetic therapies.

Keyphrases

wild type
genome wide
cancer therapy
dna methylation
copy number
gene expression