Fig. 5: Evolution and demographic distribution of the deletion at the GSDMD locus.
a The allele frequency of the deletion (indicated in green) in the genomes of 3201 samples from 26 populations in the 1000 Genomes Project46. In the pie charts, the frequencies of the reference and deletion alleles are depicted in orange and green, respectively. b The read mapping results around the deletion (indicated by the red box) at the GSDMD locus in the genomes of six representative modern humans and four archaic humans. The Han Chinese sample who carries a homozygous deletion is from the present study. We obtained the high-coverage SRS data of one Chinese-Dai individual in Xishuangbanna (CDX, ID: HG01046) who carries a homozygous deletion, one Gujarati Indians in Houston, TX (GIH, ID: NA20854) who carries a heterozygous deletion, one Toscani in Italy (TSI, ID: NA20581) sample who carries a homozygous deletion, one Colombian in Medellin, Colombia (CLM, ID: HG01261) who carries a heterozygous deletion, and one Luhya in Webuye, Kenya (LWK, ID: NA19323) who carries a heterozygous deletion. The region around the The phylogeny is based on the results of previous studies2,121,122,123,124,125,126. Due to its presence in the genomes of all modern human populations, three Neanderthals and one Denisovan, the deletion is likely to have emerged in the common ancestor of modern humans, Neanderthals, and Denisovans (highlighted by the red arrow). IBS Iberian populations in Spain, GBR British in England and Scotland, FIN Finnish in Finland, PJL Punjabi in Lahore, Pakistan, ITU Indian Telugu in the UK, STU Sri Lankan Tamil in the UK, BEB Bengali in Bangladesh, CHS Han Chinese South, CHB Han Chinese in Beijing, China, JPT Japanese in Tokyo, Japan, KHV Kinh in Ho Chi Minh City, Vietnam, CEU Utah residents (CEPH) with Northern and Western European, MXL Mexican Ancestry in Los Angeles, California, PUR Puerto Rican in Puerto Rico, PEL Peruvian in Lima, Peru, ACB African Caribbean in Barbados, ASW African Ancestry in Southwest US, ESN Esan in Nigeria, GWD Gambian in Western Division, The Gambia - Mandinka, MSL Mende in Sierra Leone, YRI Yoruba in Ibadan, Nigeria.
