Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Adolescent
Adult
Child
Child, Preschool
DNA Polymerase I
/ genetics
DNA Primase
/ genetics
Female
Genetic Diseases, X-Linked
/ etiology
Genotype
Growth Disorders
/ etiology
Humans
Hypogonadism
/ etiology
Infant
Intellectual Disability
/ etiology
Male
Microcephaly
/ etiology
Middle Aged
Mutation
Pedigree
Exome Sequencing
POLA1
X-linked
growth retardation
intellectual disability
microcephaly
polymerase alpha
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
02 05 2019
02 05 2019
Historique:
received:
08
12
2018
accepted:
04
03
2019
pubmed:
23
4
2019
medline:
7
2
2020
entrez:
23
4
2019
Statut:
ppublish
Résumé
Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of the complex machinery that achieves this task are three members of the B family of DNA polymerases: DNA polymerases α, δ, and ε. Collectively these multimeric polymerases ensure DNA replication proceeds at optimal rates approaching 2 × 10
Identifiants
pubmed: 31006512
pii: S0002-9297(19)30102-8
doi: 10.1016/j.ajhg.2019.03.006
pmc: PMC6506757
pii:
doi:
Substances chimiques
DNA Primase
EC 2.7.7.-
DNA polymerase alpha-primase
EC 2.7.7.-
DNA Polymerase I
EC 2.7.7.7
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
957-967Subventions
Organisme : Cancer Research UK
Pays : United Kingdom
Informations de copyright
Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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