The impact of poly-A microsatellite heterologies in meiotic recombination.
Alleles
Crossing Over, Genetic
/ genetics
Gene Conversion
/ genetics
Genotype
Haplotypes
/ genetics
Heterozygote
Humans
Male
Meiosis
/ genetics
Microsatellite Instability
Microsatellite Repeats
/ genetics
Mutation Rate
Poly A
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Spermatozoa
/ cytology
Tissue Donors
Journal
Life science alliance
ISSN: 2575-1077
Titre abrégé: Life Sci Alliance
Pays: United States
ID NLM: 101728869
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
04
03
2019
revised:
27
03
2019
accepted:
29
03
2019
entrez:
27
4
2019
pubmed:
27
4
2019
medline:
27
4
2019
Statut:
epublish
Résumé
Meiotic recombination has strong, but poorly understood effects on short tandem repeat (STR) instability. Here, we screened thousands of single recombinant products with sperm typing to characterize the role of polymorphic poly-A repeats at a human recombination hotspot in terms of hotspot activity and STR evolution. We show that the length asymmetry between heterozygous poly-A's strongly influences the recombination outcome: a heterology of 10 A's (9A/19A) reduces the number of crossovers and elevates the frequency of non-crossovers, complex recombination products, and long conversion tracts. Moreover, the length of the heterology also influences the STR transmission during meiotic repair with a strong and significant insertion bias for the short heterology (6A/7A) and a deletion bias for the long heterology (9A/19A). In spite of this opposing insertion-/deletion-biased gene conversion, we find that poly-A's are enriched at human recombination hotspots that could have important consequences in hotspot activation.
Identifiants
pubmed: 31023833
pii: 2/2/e201900364
doi: 10.26508/lsa.201900364
pmc: PMC6485458
pii:
doi:
Substances chimiques
Poly A
24937-83-5
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2019 Heissl et al.
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