Early queen joining and long‐term queen associations in polygyne colonies of an invasive wasp revealed by longitudinal genetic analysis

ObjectiveTo describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8.MethodsThe patient was clinically investigated at 3, 5, 9, and 25 years of age. Brain MRI, repeat muscle biopsies with biochemical, morphologic, and protein expression analyses were performed, and whole-genome sequencing was used for genetic analysis.ResultsClinical investigation revealed dysarthria, dysphagia, and muscle weakness following pneumonia at age 3 years. There was clinical regression leading to severe loss of ambulation, speech, swallowing, hearing, and vision. The clinical course stabilized after 2.5 years and improved over time. The MRI pattern in the patient demonstrated cavitating leukoencephalopathy, and muscle mitochondrial investigations showed COX deficiency with loss of complex IV subunits and ultrastructural abnormalities. Genetic analysis revealed a novel homozygous mutation in the APOPT1/COA8 gene, c.310T>C; p.(Gln104*).ConclusionsWe describe a novel nonsense mutation in APOPT1/COA8 and provide additional experimental evidence for a COX assembly defect in human muscle causing the complex IV deficiency. The long-term outcome of the disease seems in general to be favorable, and the characteristic MRI pattern with cavitating leukoencephalopathy in combination with COX deficiency should prompt for testing of the APOPT1/COA8 gene.

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The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long‐term follow‐up and genetic analysis

Pediatric Allergy and Immunology ◽

10.1111/pai.13043 ◽

2019 ◽

Vol 30 (4) ◽

pp. 469-478 ◽

Cited By ~ 4

Author(s):

Mahmood Tavassoli ◽

Hassan Abolhassani ◽

Reza Yazdani ◽

Mohsen Ghadami ◽

Gholamreza Azizi ◽

...

Keyword(s):

Genetic Analysis ◽

Immunoglobulin E ◽

Long Term Follow Up ◽

Iranian Patients

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The breed structure and genetic analysis of the pedigree cattle breeds in Australia. III. The Hereford

Australian Journal of Agricultural Research ◽

10.1071/ar9630093 ◽

1963 ◽

Vol 14 (1) ◽

pp. 93 ◽

Cited By ~ 4

Author(s):

GP Davey ◽

JSF Barker

Keyword(s):

Genetic Variation ◽

Genetic Analysis ◽

Sampling Methods ◽

Rapid Expansion ◽

Genetic Contribution ◽

Genetic History ◽

Effective Generation ◽

History Of ◽

The One

(i) The structure and genetic history of the pedigree Hereford breed in Australia are analysed by pedigree sampling methods. (ii) The pattern of the breed structure is generally similar to that found in other breeds, but it is extremely dynamic owing to the present rapid expansion of the breed. Changes are taking place in the herd composition of the major breeders' groups and there are many new herds yet to find their level in the structure. (iii) Considerable emphasis has been placed on the use of imported animals in the development of the breed. Of all herds registering in Volume 24 of the herd book, 31.6% used imported sires, and the percentage of genes in the breed in 1949 derived from animals imported since 1880 was 97.7, and from animals imported since 1930, 53.9%. (iv) The most important herd in 1949 made a genetic contribution to the breed of 33.1%, while the contributions of the four next most important herds were 17.4, 10.1, 7.4, and 6.1%. In the four-generation pedigrees from which these figures were derived, the contribution of imported animals was 56.1%. (v) The animal with the highest relationship to the breed was Free Town Director (Imp.), with direct relationships of 5.6 and 9.2% to the 1941 and 1949 samples respectively. Of the 16 sires and one dam whose direct relationships are 3.0% or more in any of the three sample years, 12 sires were imported. (vi) The total inbreeding in 1949 (base year 1880) was 2.6%. This comprised 0.2% current inbreeding, 1.6% long-term inbreeding, and 0.8% strain inbreeding. There was no evidence of subdivision of the breed into separate strains. (vii) The effective generation length has decreased since 1930 to about 5.5 years in the 1949–50 sample. Nearly 50% of the animals in this sample were sired by bulls 4 years old or younger, while about 33% were from dams 4 years old or younger. (viii) Bulls from major breeders' herds are used widely throughout the breed, while about 90% of sires and 45% of dams were bred in herds other than the one in which they were used. Therefore, it is unlikely that there is much genetic variation between herds.

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Molecular genetic analysis of collection of transgenic tobacco plants with buckwheat serine proteases inhibitor gene during long-term subculture

Russian Journal of Genetics ◽

10.1134/s1022795417110047 ◽

2017 ◽

Vol 53 (11) ◽

pp. 1200-1210

Author(s):

N. V. Khadeeva ◽

E. Yu. Yakovleva ◽

K. V. Sydoruk ◽

T. V. Korostyleva ◽

E. A. Istomina ◽

...

Keyword(s):

Genetic Analysis ◽

Transgenic Tobacco ◽

Serine Proteases ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Transgenic Tobacco Plants ◽

Tobacco Plants ◽

Inhibitor Gene

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Combining conventional QTL analysis and whole-exome capture-based bulk-segregant analysis provides new genetic insights into tuber sprout elongation and dormancy release in a diploid potato population

Heredity ◽

10.1038/s41437-021-00459-0 ◽

2021 ◽

Author(s):

Sanjeev Kumar Sharma ◽

Karen McLean ◽

Richard J. Colgan ◽

Debbie Rees ◽

Stephen Young ◽

...

Keyword(s):

Genetic Analysis ◽

Qtl Analysis ◽

Bulk Segregant Analysis ◽

Exome Capture ◽

Dormancy Release ◽

Diploid Potato ◽

Growing Seasons ◽

Whole Exome ◽

Sprout Growth

AbstractTuber dormancy and sprouting are commercially important potato traits as long-term tuber storage is necessary to ensure year-round availability. Premature dormancy release and sprout growth in tubers during storage can result in a significant deterioration in product quality. In addition, the main chemical sprout suppressant chlorpropham has been withdrawn in Europe, necessitating alternative approaches for controlling sprouting. Breeding potato cultivars with longer dormancy and slower sprout growth is a desirable goal, although this must be tempered by the needs of the seed potato industry, where dormancy break and sprout vigour are required for rapid emergence. We have performed a detailed genetic analysis of tuber sprout growth using a diploid potato population derived from two highly heterozygous parents. A dual approach employing conventional QTL analysis allied to a combined bulk-segregant analysis (BSA) using a novel potato whole-exome capture (WEC) platform was evaluated. Tubers were assessed for sprout growth in storage at six time-points over two consecutive growing seasons. Genetic analysis revealed the presence of main QTL on five chromosomes, several of which were consistent across two growing seasons. In addition, phenotypic bulks displaying extreme sprout growth phenotypes were subjected to WEC sequencing for performing BSA. The combined BSA and WEC approach corroborated QTL locations and served to narrow the associated genomic regions, while also identifying new QTL for further investigation. Overall, our findings reveal a very complex genetic architecture for tuber sprouting and sprout growth, which has implications both for potato and other root, bulb and tuber crops where long-term storage is essential.

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Long term result of transcleral FNAB for genetic analysis of uveal melanoma

Acta Ophthalmologica ◽

10.1111/j.1755-3768.2013.3642.x ◽

2013 ◽

Vol 91 ◽

pp. 0-0

Author(s):

E MIDENA

Keyword(s):

Genetic Analysis ◽

Uveal Melanoma ◽

Term Result ◽

Long Term Result

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Implantation of bone marrow beneath the kidney capsule results in transfer not only of functional stroma but also of hematopoietic repopulating cells

Blood ◽

10.1182/blood.v96.6.2307 ◽

2000 ◽

Vol 96 (6) ◽

pp. 2307-2309 ◽

Cited By ~ 11

Author(s):

Florencio Varas ◽

Teresa Grande ◽

Angel Ramı́rez ◽

Juan A. Bueren

Keyword(s):

Bone Marrow ◽

Flow Cytometry ◽

Genetic Analysis ◽

Transgenic Mice ◽

Kidney Capsule ◽

Congenic Mice ◽

Colony Forming Unit ◽

First Time ◽

Nonadherent Cells

Abstract Renal ossicles are ossified structures developed after the implantation of a bone marrow (BM) plug beneath the kidney capsule. The authors have investigated the origin of the hematopoietic cells in murine renal ossicles by conducting sex-mismatched implants into Ly-5 congenic mice. BM plugs from transgenic mice provided additional genotypic tracers. Flow cytometry analyses on nonadherent cells from long-term cultures established with ossicles excised at 17 to 40 weeks postimplantation evidenced the presence of 5% to 70% of donor-derived myeloid cells. The genetic analysis of the day 12 colony-forming unit (CFU-S12) population in ossicles excised at 10 to 40 weeks postimplantation revealed that 16% to 93% of the colonies were of donor origin. Moreover, we describe for the first time the presence of long-term repopulating cells of donor origin in ossicles excised at 10 to 19 weeks postimplantation.

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Pedigree Dorset Horn sheep in Australia. 2. Breed structure and genetic analysis

Australian Journal of Experimental Agriculture ◽

10.1071/ea9780173 ◽

1978 ◽

Vol 18 (91) ◽

pp. 173 ◽

Cited By ~ 1

Author(s):

NM Fogarty

Keyword(s):

Genetic Analysis ◽

Direct Relationship ◽

Genetic Contribution ◽

Effective Number ◽

The Third ◽

Breed Improvement ◽

High Level ◽

Relationship Of

Flock Books were used to determine the breed structure of pedigree Dorset Horn sheep in Australia. Four-generation ram sample pedigrees were used to determine important flocks in 1954, 1969 and 1974. Two-line ram sample pedigrees traced to foundation or imported animals were used to determine important animals and the level of inbreeding and its components in the same years. A hierarchical breed structure was found to exist. Only 15 to 18 per cent of flocks were Breeders' Flocks, i.e. supplied rams to other pedigree flocks, and only one-third of these supplied rams to other Breeders' Flocks. The effective number of flocks supplying sires in the third and fourth generations was two to three in 1954 and four to five in 1974 and 1969. One flock, Newbold, had a genetic contribution of over 40 per cent in 1954. Two flocks had a genetic contribution of over 20 per cent each, with five flocks having a combined genetic contribution of over 62 per cent in 1974. Total inbreeding was 12.5 per cent and increased by 1.5 per cent per generation in the five years to 1974. Current inbreeding was 1.85 per cent in 1974 with 5.0 per cent of matings being parent-offspring and 3.7 per cent paternal half-sib. Expected long-term inbreeding (7.9 per cent) was the major component, which was caused by few animals being used extensively in the development of the breed. One sire had a direct relationship of 30 per cent to rams registered in 1974. Implications of the high level of inbreeding are discussed as well as development of breed improvement schom3s within the existing breed structure.

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Implantation of bone marrow beneath the kidney capsule results in transfer not only of functional stroma but also of hematopoietic repopulating cells

Blood ◽

10.1182/blood.v96.6.2307.h8002307_2307_2309 ◽

2000 ◽

Vol 96 (6) ◽

pp. 2307-2309

Author(s):

Florencio Varas ◽

Teresa Grande ◽

Angel Ramı́rez ◽

Juan A. Bueren

Keyword(s):

Bone Marrow ◽

Flow Cytometry ◽

Genetic Analysis ◽

Transgenic Mice ◽

Kidney Capsule ◽

Congenic Mice ◽

Colony Forming Unit ◽

First Time ◽

Nonadherent Cells

Renal ossicles are ossified structures developed after the implantation of a bone marrow (BM) plug beneath the kidney capsule. The authors have investigated the origin of the hematopoietic cells in murine renal ossicles by conducting sex-mismatched implants into Ly-5 congenic mice. BM plugs from transgenic mice provided additional genotypic tracers. Flow cytometry analyses on nonadherent cells from long-term cultures established with ossicles excised at 17 to 40 weeks postimplantation evidenced the presence of 5% to 70% of donor-derived myeloid cells. The genetic analysis of the day 12 colony-forming unit (CFU-S12) population in ossicles excised at 10 to 40 weeks postimplantation revealed that 16% to 93% of the colonies were of donor origin. Moreover, we describe for the first time the presence of long-term repopulating cells of donor origin in ossicles excised at 10 to 19 weeks postimplantation.

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