Natural selection acts on genetic variants by increasing the frequency of alleles responsible for a cellular function that is favorable in a certain environment. In a previous genome-wide scan for positive selection in contemporary humans, we identified a signal of positive selection in European and Asians at the genetic variant rs10180970. The variant is located in the second intron of the ABCA12 gene, which is implicated in the lipid barrier formation and down-regulated by UVB radiation. We studied the signal of selection in the genomic region surrounding rs10180970 in a larger dataset that includes DNA sequences from ancient samples. We also investigated the functional consequences of gene expression of the alleles of rs10180970 and another genetic variant in its proximity in healthy volunteers exposed to similar UV radiation. We confirmed the selection signal and refine its location that extends over 35 kb and includes the first intron, the first two exons and the transcription starting site of ABCA12. We found no obvious effect of rs10180970 alleles on ABCA12 gene expression. We reconstructed the trajectory of the T allele over the last 80,000 years to discover that it was specific to H. sapiens and present in non-Africans 45,000 years ago.

Positive selection in Europeans and East-Asians at the ABCA12 gene / Sirica, R.; Buonaiuto, M.; Petrella, V.; Sticco, L.; Tramontano, D.; Antonini, D.; Missero, C.; Guardiola, O.; Andolfi, G.; Kumar, H.; Ayub, Q.; Xue, Y.; Tyler-Smith, C.; Salvemini, M.; D'Angelo, G.; Colonna, V.. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 9:1(2019), p. 4843. [10.1038/s41598-019-40360-9]

Positive selection in Europeans and East-Asians at the ABCA12 gene

Petrella V.;Tramontano D.;Antonini D.;Missero C.;Salvemini M.;
2019

Abstract

Natural selection acts on genetic variants by increasing the frequency of alleles responsible for a cellular function that is favorable in a certain environment. In a previous genome-wide scan for positive selection in contemporary humans, we identified a signal of positive selection in European and Asians at the genetic variant rs10180970. The variant is located in the second intron of the ABCA12 gene, which is implicated in the lipid barrier formation and down-regulated by UVB radiation. We studied the signal of selection in the genomic region surrounding rs10180970 in a larger dataset that includes DNA sequences from ancient samples. We also investigated the functional consequences of gene expression of the alleles of rs10180970 and another genetic variant in its proximity in healthy volunteers exposed to similar UV radiation. We confirmed the selection signal and refine its location that extends over 35 kb and includes the first intron, the first two exons and the transcription starting site of ABCA12. We found no obvious effect of rs10180970 alleles on ABCA12 gene expression. We reconstructed the trajectory of the T allele over the last 80,000 years to discover that it was specific to H. sapiens and present in non-Africans 45,000 years ago.
2019
Positive selection in Europeans and East-Asians at the ABCA12 gene / Sirica, R.; Buonaiuto, M.; Petrella, V.; Sticco, L.; Tramontano, D.; Antonini, D.; Missero, C.; Guardiola, O.; Andolfi, G.; Kumar, H.; Ayub, Q.; Xue, Y.; Tyler-Smith, C.; Salvemini, M.; D'Angelo, G.; Colonna, V.. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 9:1(2019), p. 4843. [10.1038/s41598-019-40360-9]
File in questo prodotto:
File Dimensione Formato  
28_Sirica_2019_PopGen_ABCA12.pdf

accesso aperto

Tipologia: Documento in Post-print
Licenza: Dominio pubblico
Dimensione 3.81 MB
Formato Adobe PDF
3.81 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/755036
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 1
  • ???jsp.display-item.citation.isi??? 0
social impact