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The complete sequence and comparative analysis of ape sex chromosomes.
Makova, Kateryna D; Pickett, Brandon D; Harris, Robert S; Hartley, Gabrielle A; Cechova, Monika; Pal, Karol; Nurk, Sergey; Yoo, DongAhn; Li, Qiuhui; Hebbar, Prajna; McGrath, Barbara C; Antonacci, Francesca; Aubel, Margaux; Biddanda, Arjun; Borchers, Matthew; Bornberg-Bauer, Erich; Bouffard, Gerard G; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Carroll, Andrew; Chang, Pi-Chuan; Chin, Chen-Shan; Cook, Daniel E; Craig, Sarah J C; de Gennaro, Luciana; Diekhans, Mark; Dutra, Amalia; Garcia, Gage H; Grady, Patrick G S; Green, Richard E; Haddad, Diana; Hallast, Pille; Harvey, William T; Hickey, Glenn; Hillis, David A; Hoyt, Savannah J; Jeong, Hyeonsoo; Kamali, Kaivan; Pond, Sergei L Kosakovsky; LaPolice, Troy M; Lee, Charles; Lewis, Alexandra P; Loh, Yong-Hwee E; Masterson, Patrick; McGarvey, Kelly M; McCoy, Rajiv C; Medvedev, Paul; Miga, Karen H; Munson, Katherine M.
Afiliação
  • Makova KD; Penn State University, University Park, PA, USA. kdm16@psu.edu.
  • Pickett BD; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Harris RS; Penn State University, University Park, PA, USA.
  • Hartley GA; University of Connecticut, Storrs, CT, USA.
  • Cechova M; University of California Santa Cruz, Santa Cruz, CA, USA.
  • Pal K; Penn State University, University Park, PA, USA.
  • Nurk S; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Yoo D; University of Washington School of Medicine, Seattle, WA, USA.
  • Li Q; Johns Hopkins University, Baltimore, MD, USA.
  • Hebbar P; University of California Santa Cruz, Santa Cruz, CA, USA.
  • McGrath BC; Penn State University, University Park, PA, USA.
  • Antonacci F; Università degli Studi di Bari Aldo Moro, Bari, Italy.
  • Aubel M; University of Münster, Münster, Germany.
  • Biddanda A; Johns Hopkins University, Baltimore, MD, USA.
  • Borchers M; Stowers Institute, Kansas City, MO, USA.
  • Bornberg-Bauer E; University of Münster, Münster, Germany.
  • Bouffard GG; MPI for Developmental Biology, Tübingen, Germany.
  • Brooks SY; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Carbone L; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Carrel L; Oregon Health and Science University, Portland, OR, USA.
  • Carroll A; Oregon National Primate Research Center, Hillsboro, OR, USA.
  • Chang PC; Penn State University School of Medicine, Hershey, PA, USA.
  • Chin CS; Google, Mountain View, CA, USA.
  • Cook DE; Google, Mountain View, CA, USA.
  • Craig SJC; Foundation of Biological Data Sciences, Belmont, CA, USA.
  • de Gennaro L; Google, Mountain View, CA, USA.
  • Diekhans M; Penn State University, University Park, PA, USA.
  • Dutra A; Università degli Studi di Bari Aldo Moro, Bari, Italy.
  • Garcia GH; University of California Santa Cruz, Santa Cruz, CA, USA.
  • Grady PGS; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Green RE; University of Washington School of Medicine, Seattle, WA, USA.
  • Haddad D; University of Connecticut, Storrs, CT, USA.
  • Hallast P; University of California Santa Cruz, Santa Cruz, CA, USA.
  • Harvey WT; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
  • Hickey G; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
  • Hillis DA; University of Washington School of Medicine, Seattle, WA, USA.
  • Hoyt SJ; University of California Santa Cruz, Santa Cruz, CA, USA.
  • Jeong H; University of California Santa Barbara, Santa Barbara, CA, USA.
  • Kamali K; University of Connecticut, Storrs, CT, USA.
  • Pond SLK; University of Washington School of Medicine, Seattle, WA, USA.
  • LaPolice TM; Penn State University, University Park, PA, USA.
  • Lee C; Temple University, Philadelphia, PA, USA.
  • Lewis AP; Penn State University, University Park, PA, USA.
  • Loh YE; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
  • Masterson P; University of Washington School of Medicine, Seattle, WA, USA.
  • McGarvey KM; University of California Santa Barbara, Santa Barbara, CA, USA.
  • McCoy RC; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
  • Medvedev P; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
  • Miga KH; Johns Hopkins University, Baltimore, MD, USA.
  • Munson KM; Penn State University, University Park, PA, USA.
Nature ; 630(8016): 401-411, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38811727
ABSTRACT
Apes possess two sex chromosomes-the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked to infertility1. The X chromosome is vital for reproduction and cognition2. Variation in mating patterns and brain function among apes suggests corresponding differences in their sex chromosomes. However, owing to their repetitive nature and incomplete reference assemblies, ape sex chromosomes have been challenging to study. Here, using the methodology developed for the telomere-to-telomere (T2T) human genome, we produced gapless assemblies of the X and Y chromosomes for five great apes (bonobo (Pan paniscus), chimpanzee (Pan troglodytes), western lowland gorilla (Gorilla gorilla gorilla), Bornean orangutan (Pongo pygmaeus) and Sumatran orangutan (Pongo abelii)) and a lesser ape (the siamang gibbon (Symphalangus syndactylus)), and untangled the intricacies of their evolution. Compared with the X chromosomes, the ape Y chromosomes vary greatly in size and have low alignability and high levels of structural rearrangements-owing to the accumulation of lineage-specific ampliconic regions, palindromes, transposable elements and satellites. Many Y chromosome genes expand in multi-copy families and some evolve under purifying selection. Thus, the Y chromosome exhibits dynamic evolution, whereas the X chromosome is more stable. Mapping short-read sequencing data to these assemblies revealed diversity and selection patterns on sex chromosomes of more than 100 individual great apes. These reference assemblies are expected to inform human evolution and conservation genetics of non-human apes, all of which are endangered species.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomo X / Cromossomo Y / Hominidae Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomo X / Cromossomo Y / Hominidae Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article