FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Nestor-Guillermo progeria syndrome
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General Information
Name
Nestor-Guillermo progeria syndrome
FlyBase ID
FBhh0001507
Disease Ontology Term
Parent Disease
OMIM
NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS
Overview

This report describes Nestor-Guillermo progeria syndrome, a subtype of progeria that exhibits autosomal recessive inheritance. The human gene implicated is BANF1, which encodes BAF nuclear assembly factor 1, There is one high-scoring fly ortholog, Dmel\baf, for which an amorphic allele, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Additionally, a construct reflecting a variant implicated in disease, Dmel\baf;p.A13T (orthologous to Hsap\BANF1;p.A12T) has been generated. See the 'Disease-Implicated Variants' table below.

Human BANF1 has not been introduced into flies.

Flies bearing amorphic alleles of Dmel\baf fail to develop beyond the larval/pupal transition due to blocked mitosis, while flies hemizygous for 'progeroiod Dmel\baf' (bafgfpA13T) often survive to adulthood. Adult flies hemizygous for progeroiod Dmel\baf exhibit disruption in ovary homeostasis, and produce eggs that hatch at a lower frequency than those of controls, a result consistent with dysfunction in tissues that depend on adult stem cells for homeostasis. Survival of differentiating germ cells is also reduced.

[updated Apr. 2024 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: progeroid syndrome
Symptoms and phenotype

Progeroid syndromes arecharacterized by the premature onset of age-related pathologies.

(FlyBase Curators, 2013-)

Progeria is characterized lipodystrophy or lipoatrophy, osteolysis, facial features resembling those of aged persons, and other characteristics associated with aging observed children or young adults. [from MIM:176670, MIM:614008; 2023.04.03]

(OMIM, 2013-)
Specific Disease Summary: Nestor-Guillermo progeria syndrome
OMIM report

[NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS](https://omim.org/entry/614008)

Human gene(s) implicated

[BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1](https://omim.org/entry/603811)

Symptoms and phenotype

Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011, pubmed:21932319,) [from MIM:614008; 2023.03.21]

(OMIM, 2013-)
Genetics

Nestor-Guillermo progeria syndrome (NGPS) is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. [from MIM:614008; 2023.03.21]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

The BANF1 gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]

(FlyBase Curators, 2013-)
External links
Disease synonyms
NGPS
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
BANF1; barrier to autointegration nuclear assembly factor 1
D. melanogaster ortholog (based on DIOPT)
Dmel\baf
(DIOPT, 2013-)
Comments on ortholog(s)

Two to one (2 human to 1 Drosophila); BANF1 has one high-scoring Drosophila ortholog, baf.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Dmel\baf
    Gene Snapshot
    Contributions welcome
    Molecular function (GO)
    Cellular component (GO)
    Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human BANF1, moderate scoring ortholog of human BANF2 (1 Drosophila to 2 human).

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      H. sapiens (Human)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (11 groups)
        baf
        protein-protein
        Interacting group
        Assay
        References
        baf - ball
        pull down, western blot, enzymatic study, autoradiography
        (Lancaster et al., 2007)
        baf - bocks
        two hybrid
        (Schulze et al., 2009, Pinto et al., 2008)
        baf - Cenp-C
        anti bait coimmunoprecipitation, western blot, anti tag western blot
        (Torras-Llort et al., 2020)
        baf - CG8679
        two hybrid
        (Pinto et al., 2008)
        baf - CG42557
        experimental knowledge based
        (Guruharsha et al., 2011)
        baf - Fas2
        experimental knowledge based
        (Guruharsha et al., 2011)
        baf - Lam
        anti tag coimmunoprecipitation, anti tag western blot
        (Mehsen et al., 2018)
        baf - MAN1
        pull down, autoradiography, two hybrid
        (Wagner et al., 2010, Pinto et al., 2008)
        baf - Ote
        two hybrid, pull down, Identification by mass spectrometry, anti tag coimmunoprecipitation, anti tag western blot
        (Emond-Fraser et al., 2023, Pinto et al., 2008)
        baf - Rex2
        experimental knowledge based
        (Guruharsha et al., 2011)
        baf - tws
        proximity ligation assay, fluorescence microscopy, anti tag coimmunoprecipitation, anti tag western blot
        (Mehsen et al., 2018)
        Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
        baf
        Models Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Evidence
        References
        bafgfpA13T
        model of  Nestor-Guillermo progeria syndrome
        CEA
        (Duan et al., 2023)
        Modifiers Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Interaction
        References
        bafgfpA13T
        model of  Nestor-Guillermo progeria syndrome
        is ameliorated by lok30
        (Duan et al., 2023)
        is ameliorated by lokKD
        (Duan et al., 2023)
        is ameliorated by lokp6
        (Duan et al., 2023)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Hsap\BANF1UAS.Tag:HA
        M{UAS-hBANF1.HA}
        y1 w*; M{UAS-hBANF1.HA}ZH-86Fb/TM3, Sb1
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        bafGD13585
        P{GD13585}
        bafKK109252
        P{KK109252}
        P{KK109252}VIE-260B
        bafHMS00195
        P{TRiP.HMS00195}
        y1 sc* v1 sev21; P{TRiP.HMS00195}attP2
        bafNIG.7380R
        P{NIG.7380R}
        P{NIG.7380R}2
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        bafgfpA13T
        CRISPR/Cas9
        y1 w*; TI{TI}bafgfpA13T/CyO, y+
        baf1
        amorphic allele - molecular evidence
        Delta2-3 transposase
        y1 w*; baf1/CyO, P{GAL4-Kr.C}DC3, P{UAS-GFP.S65T}DC7
        References (5)