GLUTAMATE-OXALOACÉTATE TRANSAMINASE ET α-GLYCÉROPHOSPHATE DÉSHYDROGÉNASE CHEZ LE MOUSTIQUE AEDES (OCHLEROTATUS) CASPIUS: GÉNÉITIQUE FORMELLE ET ÉTUDE DE POPULATIONS

1979 ◽  
Vol 21 (1) ◽  
pp. 25-32 ◽  
Author(s):  
André Mery ◽  
Nicole Pasteur ◽  
Eliane Guilvard
Keyword(s):  
Electrophoretic Mobility ◽  
Sibling Species ◽  
Sex Chromosome ◽  
Crossing Over ◽  
Glutamate Oxaloacetate Transaminase ◽  
Low Level ◽  
Aedes Caspius ◽  
Glycerophosphate Dehydrogenase

In Aedes caspius (Pallas) the α-Gpd locus, coding an α-glycerophosphate dehydrogenase, has three codominant alleles and is localized on the sex chromosome at about one unit of crossing-over from the sex factor. The Got-1 locus, coding a glutamate-oxaloacetate transaminase has four codominant alleles and is autosomal. The study of nine populations collected in France, Tunisia and Morocco demonstrates a low level of polymorphism at the α-Gpd locus (heterozygosity of 0.065 per population) and a high polymorphism at the Got-1 locus (heterozygosity of 0.496 per population). Got-1 polymorphism of A. caspius is compared with that of the two A. detritus sibling species that segregate for alleles with the same electrophoretic mobility, and colonized the same sites.

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

scholarly journals Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Simona Baronchelli ◽  
Donatella Conconi ◽  
Elena Panzeri ◽  
Angela Bentivegna ◽  
Serena Redaelli ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Function ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Population Group ◽  
Ovarian Failure ◽  
Chromosome Mosaicism ◽  
Low Level

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

scholarly journals CROSSING-OVER IN THE SEX CHROMOSOME OF THE MALE FOWL

Science ◽  
1917 ◽  
Vol 46 (1183) ◽  
pp. 213-213 ◽  
Author(s):  
H. D. Goodale
Keyword(s):  
Sex Chromosome ◽  
Crossing Over

Sibling species and sex chromosome differentiation in Simulium neornatipes (Diptera: Simuliidae)

1984 ◽  
Vol 26 (3) ◽  
pp. 318-325 ◽  
Author(s):  
D. G. Bedo
Keyword(s):  
Polytene Chromosome ◽  
Sibling Species ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Close Association ◽  
Chromosome Analysis ◽  
Sex Linkage ◽  
Direct Role ◽  
Chromosome Differentiation ◽  
Close Relationship

Polytene chromosome analysis of five Simulium neornatipes populations not only confirms the existence of the two sibling species, S. neornatipes 1 and 2, proposed earlier but reveals a third. S. neornatipes 3. These sibling species share a common standard polytene chromosome banding sequence which differs from the Australian S. ornatipes complex standard by five fixed inversions. The sharing of polymorphic inversions between the ornatipes and neornatipes complexes indicates their close relationship. The neornatipes species are distinguished from each other by additional fixed inversions and differentiated sex chromosomes. Extensive sex chromosome differentiation involving chromosome III has occurred in S. neornatipes 1 and 2. A period of incomplete sex-linkage allowing reassortment of inversions must have preceded the currently observed strong sex-linkage of differentiated sex chromosomes to account for the complex array of sex chromosomes found. The close association of sex chromosome differentiation with speciation in black flies is discussed in relation to appropriate speciation mechanisms. It is concluded that the rearrangements themselves have no direct role in the speciation process.Key words: sibling species, sex chromosomes, Simuliidae.

High prevalence of low-level sex chromosome mosaicism in female partner in couples with male factor infertility

2002 ◽  
Vol 78 ◽  
pp. S188
Author(s):  
Edson Borges ◽  
Leila Farah ◽  
Lia Mara Rossi-Ferragut ◽  
Claudia Chagas Rocha ◽  
Daniela Regina Santos ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Female Partner ◽  
Male Factor Infertility ◽  
Male Factor ◽  
Chromosome Mosaicism ◽  
Low Level ◽  
High Prevalence

Sibling species of the blackfly Prosimulium onychodactylum (Simuliidae, Diptera): a salivary gland chromosome study

1983 ◽  
Vol 61 (12) ◽  
pp. 2816-2835 ◽  
Author(s):  
Lester J. Newman
Keyword(s):  
Salivary Gland ◽  
Reproductive Isolation ◽  
Sibling Species ◽  
Chromosome Pairing ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Homologous Pairing ◽  
Chromosome Markers ◽  
Chromosome Arm ◽  
Backcross Hybrids

Larvae of the morphospecies Prosimulium onychodactylum collected from two streams in northern Oregon are divided into 11 sibling species based on fixed and polymorphic inversions. The sibling species have differentiated sex chromosomes; each sibling species falls into one of two groups based on the chromosome arm which carries the sex chromosome markers. Males exhibit lack of homologous pairing or inversion heterzygosity and females have complete chromosome pairing or inversion homozygosity. There is a succession of sibling species which mature in the streams from January through September. Mature larvae of each sibling species are present for about 6 weeks; some are synchronic while others are allochronic. Some of the sibling species occur in the same stream and others are in different streams. Sibling species which are both synchronic and sympatric appear to be reproductively isolated. Reproductive isolation may not be complete for sibling species which are normally allopatric or allochronic; small numbers of F1 and backcross hybrids were found between some of these sibling species. The division of the morphospecies into sibling species was also observed in collections from Washington through northern California.

scholarly journals A Saccharomyces cerevisiae RAD52 allele expressing a C-terminal truncation protein: activities and intragenic complementation of missense mutations.

Genetics ◽  
1993 ◽  
Vol 133 (1) ◽  
pp. 39-49 ◽  
Author(s):  
K L Boundy-Mills ◽  
D M Livingston
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Dna Repair ◽  
Deletion Mutants ◽  
Crossing Over ◽  
Missense Mutations ◽  
Wild Type ◽  
Spore Viability ◽  
Deletion Allele ◽  
Low Level ◽  
Intragenic Complementation

Abstract A nonsense allele of the yeast RAD52 gene, rad52-327, which expresses the N-terminal 65% of the protein was compared to two missense alleles, rad52-1 and rad52-2, and to a deletion allele. While the rad52-1 and the deletion mutants have severe defects in DNA repair, recombination and sporulation, the rad52-327 and rad52-2 mutants retain either partial or complete capabilities in repair and recombination. These two mutants behave similarly in most tests of repair and recombination during mitotic growth. One difference between these two alleles is that a homozygous rad52-2 diploid fails to sporulate, whereas the homozygous rad52-327 diploid sporulates weakly. The low level of sporulation by the rad52-327 diploid is accompanied by a low percentage of spore viability. Among these viable spores the frequency of crossing over for markers along chromosome VII is the same as that found in wild-type spores. rad52-327 complements rad52-2 for repair and sporulation. Weaker intragenic complementation occurs between rad52-327 and rad52-1.

The population structure of Simulium vittatum (Zett.): the IIIL-1 and IS-7 sibling species

1981 ◽  
Vol 59 (10) ◽  
pp. 1857-1883 ◽  
Author(s):  
Klaus Rothfels ◽  
David Featherston
Keyword(s):  
United States ◽  
Population Structure ◽  
Salivary Gland ◽  
Sibling Species ◽  
Sex Chromosome ◽  
Geographic Pattern ◽  
Northeastern United States ◽  
Simulium Vittatum ◽  
Cytological Characteristics ◽  
Wide Zone

This paper describes two sibling species in Simulium vittatum (Zett.) on the basis of their salivary gland chromosomes. The IIIL-1 sibling is characterized by a Y chromosome carrying the IIIL-1 inversion; the IS-7 sibling is characterized by the IS-7 X chromosome. The basic banding sequences are identical in the two sibling species. The siblings differ however in the relative frequencies of standard and inverted sequences for a number of autosomal polymorphisms that they share. Standard sequences are predominant in the IIIL-1 sibling and inverted sequences in the IS-7 type. The IIIL-1 sibling is distributed from the Atlantic, south to the Gulf of Mexico and west to the Saskatchewan–Alberta border. The IS-7 sibling ranges from the Atlantic to Alaska, but so far has not been found south of Pennsylvania. The sibling species are sympatric over a wide zone extending through parts of Quebec, Ontario, and northeastern United States via Michigan, Wisconsin, and Minnesota to Saskatchewan and Alberta. It is argued that the two sibling species originated in the region of the present sympatry. Evidence for this conclusion derives from the geographic pattern of sex chromosome and autosome polymorphism in North America and from cytological characteristics of certain extraterritorial populations (Iceland).

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