Effects of sister chromatid cohesion proteins on<i>cut</i>gene expression during wing development in<i>Drosophila</i>

Dorsett, Dale; Eissenberg, Joel C.; Misulovin, Ziva; Martens, Andrew; Redding, Bethany; McKim, Kim S.

doi:10.1242/dev.02064

Cited by 132 publications

(198 citation statements)

References 82 publications

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“…All preimmune sera showed only low-level background immunostaining, and the Nipped-B, Pds5, and Rad21 antisera show staining that colocalizes with SA and Smc1 on polytene chromosomes (see "Results"). Homozygous pds5 e3 mutants live to the third instar, and the maternal mRNA is virtually absent by the second instar stage (Dorsett et al 2005). The salivary gland chromosomes from homozygous pds5 e3 null mutants show staining for cohesin (Dorsett et al 2005), but as expected, they show only background staining with the Pds5 antisera.…”

Section: Nipped-b Pds5 and Rad21 Antibodiesmentioning

confidence: 51%

“…Homozygous pds5 e3 mutants live to the third instar, and the maternal mRNA is virtually absent by the second instar stage (Dorsett et al 2005). The salivary gland chromosomes from homozygous pds5 e3 null mutants show staining for cohesin (Dorsett et al 2005), but as expected, they show only background staining with the Pds5 antisera. By Western blots of whole-cell and nuclear extracts of cultured cells, whole-cell extracts of imaginal disks, adult ovaries, and embryos, the guinea pig Nipped-B antibody recognizes one major band close to the expected size (237 kDa) that is reduced in levels in embryos from heterozygous mutant mothers and cultured cells treated with anti-Nipped-B RNAi ( Supplementary Fig.…”

Section: Nipped-b Pds5 and Rad21 Antibodiesmentioning

confidence: 51%

“…Similar primary antibody dilutions of 1:2,000 to 1:5,000 were used for SA, Smc1, Rad21, and Pds5. The SA and Smc1 antisera have been described previously (Dorsett et al 2005). Proteins were detected by chemiluminescence (Western Lightening, Perkin Elmer) and autoradiography.…”

Section: Western Blotsmentioning

confidence: 99%

“…Salivary gland polytene chromosomes were prepared and immunostained as previously described (Dorsett et al 2005) using a 1:100 or 1:200 dilution of primary antiserum and a 1:200 dilution of secondary antibodies that do not show cross-species reactivity (Jackson Laboratories). The SA and Smc1 antisera used for staining polytene chromosomes were described previously (Dorsett et al 2005).…”

Section: Immunostainingmentioning

confidence: 99%

“…The SA and Smc1 antisera used for staining polytene chromosomes were described previously (Dorsett et al 2005). …”

Section: Immunostainingmentioning

confidence: 99%

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Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

et al. 2007

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Drosophila Nipped-B is an essential protein that has multiple functions. It facilitates expression of homeobox genes and is also required for sister chromatid cohesion. Nipped-B is conserved from yeast to man, and its orthologs also play roles in deoxyribonucleic acid repair and meiosis. Mutation of the human ortholog, Nipped-B-Like (NIPBL), causes Cornelia de Lange syndrome (CdLS), associated with multiple developmental defects. The Nipped-B protein family is required for the cohesin complex that mediates sister chromatid cohesion to bind to chromosomes. A key question, therefore, is whether the Nipped-B family regulates gene expression, meiosis, and development by controlling cohesin. To gain insights into Nipped-B's functions, we compared the effects of several Nipped-B mutations on gene expression, sister chromatid cohesion, and meiosis. We also examined association of Nipped-B and cohesin with somatic and meiotic chromosomes by immunostaining. Missense Nipped-B alleles affecting the same HEAT repeat motifs as CdLS-causing NIPBL mutations have intermediate effects on both gene expression and mitotic chromatid cohesion, linking these two functions and the role of NIPBL in human development. Nipped-B colocalizes extensively with cohesin on chromosomes in both somatic and meiotic cells and is present in soluble complexes

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Section: Nipped-b Pds5 and Rad21 Antibodiesmentioning

confidence: 51%

Section: Nipped-b Pds5 and Rad21 Antibodiesmentioning

confidence: 51%

Section: Western Blotsmentioning

confidence: 99%

Section: Immunostainingmentioning

confidence: 99%

“…The SA and Smc1 antisera used for staining polytene chromosomes were described previously (Dorsett et al 2005). …”

Section: Immunostainingmentioning

confidence: 99%

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Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

et al. 2007

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Sister Chromatid Cohesion, Chromosome Instability (CIN) and Diseases

Zhang

Yuen

2020

Encyclopedia of Life Sciences

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To pass on the complete set of genetic information from mother to daughter cells in mitosis, or from parental germ cells to gametes in meiosis, chromosomal deoxyribonucleic acid (DNA) must be accurately replicated and sister chromatids must be held together before they separate in anaphase. Sister chromatid cohesion is a dynamic process that is regulated by the cohesin complex, cell cycle regulation of cohesin ring loading, cohesion establishment, maintenance and dissolution. Cohesion‐related proteins also play additional roles in DNA replication, DNA repair, and gene regulation. Defects in sister chromatid cohesion or cohesion dissolution will lead to aneuploidy and chromosome instability (CIN). Mutations or misregulation of cohesin subunits, or cohesion‐related genes have been implicated in cancers, cohesinopathies, neurological diseases and aneuploid oocytes observed in maternal ageing. Understanding of the pathology of these diseases enables recent development of cohesion genes as biomarkers in prognosis and therapies that target cohesion defects or CIN. Key Concepts Sister chromatid cohesion is an important cell cycle‐regulated process that maintains chromosome stability. Sister chromatid cohesion is established in S phase coupled with DNA replication, maintained in G2/M phase until anaphase onset. Many cohesion‐related proteins also play roles in DNA replication, DNA repair and gene regulation. Mutations or misregulation of cohesin subunits, or cohesion‐related genes have been implicated in cancers, cohesinopathies, neurological diseases and aneuploid oocytes observed in maternal ageing. Cohesion genes can be used as biomarkers in cancer prognosis, and cancer therapies can target tumours with cohesion defects or CIN.

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Natural history of aging in Cornelia de Lange syndrome

Kline

Grados

Sponseller

et al. 2007

American J of Med Genetics Pt C

140

177

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Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.

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Effects of sister chromatid cohesion proteins oncutgene expression during wing development inDrosophila

Cited by 132 publications

References 82 publications

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

Sister Chromatid Cohesion, Chromosome Instability (CIN) and Diseases

Natural history of aging in Cornelia de Lange syndrome

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