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A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes.

Publication ,  Journal Article
Toh, H; Yang, C; Formenti, G; Raja, K; Yan, L; Tracey, A; Chow, W; Howe, K; Bergeron, LA; Zhang, G; Haase, B; Mountcastle, J; Fedrigo, O ...
Published in: BMC Biol
November 8, 2022

BACKGROUND: The Nile rat (Avicanthis niloticus) is an important animal model because of its robust diurnal rhythm, a cone-rich retina, and a propensity to develop diet-induced diabetes without chemical or genetic modifications. A closer similarity to humans in these aspects, compared to the widely used Mus musculus and Rattus norvegicus models, holds the promise of better translation of research findings to the clinic. RESULTS: We report a 2.5 Gb, chromosome-level reference genome assembly with fully resolved parental haplotypes, generated with the Vertebrate Genomes Project (VGP). The assembly is highly contiguous, with contig N50 of 11.1 Mb, scaffold N50 of 83 Mb, and 95.2% of the sequence assigned to chromosomes. We used a novel workflow to identify 3613 segmental duplications and quantify duplicated genes. Comparative analyses revealed unique genomic features of the Nile rat, including some that affect genes associated with type 2 diabetes and metabolic dysfunctions. We discuss 14 genes that are heterozygous in the Nile rat or highly diverged from the house mouse. CONCLUSIONS: Our findings reflect the exceptional level of genomic resolution present in this assembly, which will greatly expand the potential of the Nile rat as a model organism.

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Published In

BMC Biol

DOI

EISSN

1741-7007

Publication Date

November 8, 2022

Volume

20

Issue

1

Start / End Page

245

Location

England

Related Subject Headings

  • Murinae
  • Humans
  • Haplotypes
  • Genomics
  • Genome
  • Diabetes Mellitus, Type 2
  • Developmental Biology
  • Animals
  • 31 Biological sciences
  • 06 Biological Sciences
 

Citation

APA
Chicago
ICMJE
MLA
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Toh, H., Yang, C., Formenti, G., Raja, K., Yan, L., Tracey, A., … Bukhman, Y. V. (2022). A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes. BMC Biol, 20(1), 245. https://doi.org/10.1186/s12915-022-01427-8
Toh, Huishi, Chentao Yang, Giulio Formenti, Kalpana Raja, Lily Yan, Alan Tracey, William Chow, et al. “A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes.BMC Biol 20, no. 1 (November 8, 2022): 245. https://doi.org/10.1186/s12915-022-01427-8.
Toh H, Yang C, Formenti G, Raja K, Yan L, Tracey A, et al. A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes. BMC Biol. 2022 Nov 8;20(1):245.
Toh, Huishi, et al. “A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes.BMC Biol, vol. 20, no. 1, Nov. 2022, p. 245. Pubmed, doi:10.1186/s12915-022-01427-8.
Toh H, Yang C, Formenti G, Raja K, Yan L, Tracey A, Chow W, Howe K, Bergeron LA, Zhang G, Haase B, Mountcastle J, Fedrigo O, Fogg J, Kirilenko B, Munegowda C, Hiller M, Jain A, Kihara D, Rhie A, Phillippy AM, Swanson SA, Jiang P, Clegg DO, Jarvis ED, Thomson JA, Stewart R, Chaisson MJP, Bukhman YV. A haplotype-resolved genome assembly of the Nile rat facilitates exploration of the genetic basis of diabetes. BMC Biol. 2022 Nov 8;20(1):245.
Journal cover image

Published In

BMC Biol

DOI

EISSN

1741-7007

Publication Date

November 8, 2022

Volume

20

Issue

1

Start / End Page

245

Location

England

Related Subject Headings

  • Murinae
  • Humans
  • Haplotypes
  • Genomics
  • Genome
  • Diabetes Mellitus, Type 2
  • Developmental Biology
  • Animals
  • 31 Biological sciences
  • 06 Biological Sciences