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DTSTART:20180325T030000
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DTSTART:20171029T020000
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DTSTAMP:20260426T212758Z
UID:5a44e513134bf753788809@ist.ac.at
DTSTART:20180307T100000
DTEND:20180307T110000
DESCRIPTION:Speaker: Ellen Leffler\nhosted by Beatriz Vicoso\nAbstract: Mal
 aria is thought to have been an important selective pressure during recent
  human evolution\, and continues to cause a large disease burden today. In
  order to identify genetic variation that influences susceptibility to mal
 aria\, we have been conducting genome wide association studies of severe m
 alaria in sub-Saharan Africa. Recently\, we found a novel association sign
 al near the glycophorin gene cluster\, which encodes two red blood cell su
 rface proteins (GYPA and GYPB) that serve as receptors for the malaria par
 asite Plasmodium falciparum\, and also determine the diverse MNS blood gro
 up system.  In this talk\, I will describe how I have further characterise
 d genetic variation at this locus\, faced with the challenge of high seque
 nce similarity between the paralagous genes. I identify an array of large 
 copy number variants in human populations\, some of which are predicted to
  underlie known blood group phenotypes\, and find that the association wit
 h severe malaria is explained by a complex structural variant involving th
 e loss of GYPB and gain of two GYPB-A hybrid genes. Finally\, I will focus
  on this rearrangement\, discussing its possible functional consequences a
 nd evidence for selection.
LOCATION:Big Seminar room Ground floor / Office Bldg West (I21.EG.101)\, IS
 TA
ORGANIZER:pdelreal@ist.ac.at
SUMMARY:Ellen Leffler: The MNS blood group and resistance to malaria
URL:https://talks-calendar.ista.ac.at/events/1054
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