Inversions in evolution of man and closely related species

By the comparative study of the karyotypes of many Primates, 35 inversions (25 peri- and 10 paracentric) having accumulated during evolution of species related to man were reconstructed. Some of them originated human chromosomes from more ancestral chromosomes still present in other primate species. Their detection in man would indicate the occurrence of reverse mutations. Other inversions occurred in ancestral chromosomes identical to those of man, and originated chromosomes of other Primates species. Their detection in man would indicate the occurrence of a convergent mutation. It is shown that such reverse and convergent mutations do occur. They are too frequently observed than by mere chance among patients ascertained in human cytogenetic laboratories. Their excess is still larger among radiation induced inversions in human cells. This demonstrates the nonrandom occurrence of inversions. In addition, it is concluded that inversions which have accumulated during evolution are more representative of mutagenesis than those detected in human cytogenetic laboratories.     

Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature

Summary A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2)). His parents, who are first cousins, and his phenotypically normal younger brother are inversion heterozygotes. Homozygous structural rearrangements are discussed and cases of paracentric inversions, including a further nine previously unpublished, are reviewed.     

Chromosome Differentiated Populations of Cruzii: Evidence for a Third Sibling Species

Anopheles cruziiis the most common species of mosquito in Southeast Brazil and a vector of human and monkey malaria. The banding pattern of the ovarian polytene chromosomes and the frequencies of paracentric inversions of individuals from two populations were studied. A new sequence of bands on the sex chromosome, defined as form C, was disclosed. In both populations where forms A (considered as standard) and C are sympatric no heterozygotes were detected. A sequence of events that could account for the observed changes in the banding sequences of the X chromosome forms was proposed. The frequencies of 22 paracentric inversions were used to assess panmixia and the results indicated the presence of two distinct genetic pools in each population. We consider these results as evidence of another sibling species in the taxon cruzii, characterized by a distinctive form of the X chromosome and provisionally designated Anopheles cruziispecies C.     

Intrachromosomal insertions: a case report and a review

Summary We describe the phenotype of a child having a recombinant chromosome 3 with a duplication 3q13.2 q25 derived from a paternal inv ins(3)(p25.3q25q13.2). A review of 27 reported cases of intrachromosomal insertions has revealed that for a carrier of intrachromosomal insertion the risk of a child with an unbalanced karyotype is 15%. This risk may be higher for particular insertions. The recombinant chromosome can have a duplication or a deletion of different segments depending on whether the insertion is direct or inverted, paracentric or pericentric, and whether there is meiotic crossing over in the inserted or the interstitial non-inserted segment. Several of the insertions have been difficult to interpret and some of them have been mistaken for paracentric inversions. Caution is therefore indicated in interpreting parental karyotypes of a child with a deletion or a duplication, particularly if it is interstitial. This is because, whereas a risk of recurrence of a child with an unbalanced karyotype is low in de novo cases and for carriers of paracentric inversions, it is high for carriers of insertions.     

Paracentric inversion in man: Personal experience and review of the literature

Summary The personal experience of seven patients with a paracentric inversion is reported, including cytogenetic, clinical, and familial findings. The present knowledge on paracentric inversions in man is reviewed.     

Paracentric inversions in man

Summary The Leuven cytogenetic center experience on paracentric inversions in man is discussed. From a total of 51,000 patients, referred for constitutional chromosome analysis during the period 1970–1985, paracentric inversions were found in 18 index patients. A puzzling finding is the high incidence (26%) of mental retardation and/or congenital malformation in the inversion carrier offspring of phenotypically normal parents with identical chromosomal rearrangements. There was also a high incidence of early fetal loss in the inversion carrier parents. This finding may be explained by an increase of chromosomally unbalanced gametes which result from crossing-over in the meiotic inversion loop. Finally, the possibility of an increased tendency to non-disjunction in paracentric inversion carrier parents is discussed. The most frequent paracentric inversion was inv(3)(p13p25); it was detected in seven unrelated index patients. According to the present experience and the literature data, the breakpoints in paracentric inversions seem to occur preferentially at 1p22, 1p36, 3p13, 3p25, 7q11, and 7q22 regions.     

Adaptive association of inversions in a natural population of the malaria mosquito Anopheles messeae Fall.]

The dependent combination of chromosomal variants by five paracentric inversions (IL1, IL2, IIR1, IIIR1, IIIL1) in Anopheles messeae population from the West Siberia was discovered. It is found that the inversion interactions interactions are the same at both larval and imaginal parts of the population, and they are stable during four years of studying. The inversion of hetero- and homozygotes demonstrates identical properties, that is, phylogenetic secondary sequencies dominate in heterozygotes. Two associative groups of chromosome variants were revealed. The association correlates with geographic distribution and temporal dynamics of inversions and on the whole, it reflects the evolutionary history of inversion polymorphism in A. messeae. It is supposed that the adaptive association of inversions found is the high degree polymorphism formed and functioned on the basis of the groups of inversion chromosome blocks.     

Paracentric inversions in man. Apropos of 2 familial observations

Two observations of paracentric inversion in man are reported. One is located on the long arm of chromosome 1 and was observed over two generations. The other is on the long arm of chromosome 5 and was transmitted over three generations. The possible implications of paracentric inversions on the phenotype and fertility are discussed.     

Sperm size abnormalities in homozygous and heterozygous In(5)9Rk mice.

Sperm abnormalities were scored in In(5)9Rk homozygotes, heterozygotes and in the inbred strains, C57BL/6J, C3H/HeJ, DBA/2J and JUFaCt, used to produce the geterozygotes. The sperm abnormalities of the inversion heterozygotes were remarkable, about 40% were either double-headed or abnormally large in size. The double-headed sperm had head dimensions similar to those of normal-sized sperm, but the large sperm heads were 1.2 times longer and 1.3 times wider and presumably had twice the usual nuclear volume. This observation suggests that the anaphase bridge formed in inversion heterozygotes resulting from the paracentric inversion may constitute an impediment to cytokinesis and may lead to two genomes being packaged into a single sperm. If this is a general phenomenon, sperm morphology may provide a useful screen for paracentric inversions.     

Radiation induced inversions in human somatic cells

Peri- and paracentric inversions induced by various types of ionizing radiation (gamma and alpha-rays, neutron and neon beams) are analysed. Their frequencies significantly increase for radiation doses greater than or equal to .5 Gy. Their distribution does not seem to be at random. Pericentric are detected 3 to 4 times more frequently than paracentric inversions. Some identical inversions are recurrently induced. A proportion reproduces inversions detected in human cytogenetics laboratories and a larger proportion, chromosomes of other primate species. It seems that breakages, which numbers are roughly proportional to chromosome lengths, lead to reassociations with a limited number of combinations.     

Paracentric inversion 11

A new familial case of paracentric inversion of chromosome 11 inv(11)(q21q23.3) ascertained by multiple abortions in a female carrier is presented. A review of the literature shows 19 further cases of paracentric inversion 11. According to the different breakpoints, the inversions of the long arm of chromosome 11 may be classified into three types.     

Genetic differentiation in theAedes atropalpus complex. II. Chromosomal divergence betweenAe. atropalpus andAe. epactius

Analysis of meiotic chromosomes from hybrids betweenAedes atropalpus andAe. epactius has revealed that the two species are fixed for alternate arrangements of four inversions: a paracentric inversion of chromosome 1, two paracentric inversions of chromosome 2, and a pericentric inversion of chromosome 3. This chromosomal heterozygosity in the interspecific hybrids has resulted in extensive meiolic chromosomal asynapsis. Dicentric bridges, acentric fragments, and chromosomal breakage were also associated with the heterozygous inversions. This disruption of meiosis was sufficient to account for the partial sterility observed in interspecific hybrids. No chromosomal polymorphisms, aberrations, or reduction in fertility was observed in parental strains of intraspecific hybrids of the two species.     

Patterns of inversion polymorphism in three species of the Drosophila melanogaster species group

In Drosophila, chromosomal polymorphism due to paracentric inversions is very common and constitutes an adaptive character. The degree of chromosomal variability varies in different species and also in different populations of the same species. Chromosomal polymorphism in Indian natural populations of three species, D. melaonogaster, D. ananassae and D. bipectinata which belong to the melanogaster species group has been studied and the quantitative data on frequency of inversions have been reported. Behaviour of chromosome inversions has also been studied in laboratory conditions. The present review summarises the work done on inversion polymorphism in Indian populations of three species which clearly demonstrates that these three species vary in their patterns of inversion polymorphism and have evolved different mechanisms for adjustment to their environments although they belong to the same species group.     

Chromosomal Homology and Molecular Organization of Muller''s Elements D and E in the Drosophila Repleta Species Group

Thirty-three DNA clones containing protein-coding genes have been used for in situ hybridization to the polytene chromosomes of two Drosophila repleta group species, D. repleta and D. buzzatii. Twenty-six clones gave positive results allowing the precise localization of 26 genes and the tentative identification of another nine. The results were fully consistent with the currently accepted chromosomal homologies and in no case was evidence for reciprocal translocations or pericentric inversions found. Most of the genes mapped to chromosomes 2 and 4 that are homologous, respectively, to chromosome arms 3R and 3L of D. melanogaster (Muller's elements E and D). The comparison of the molecular organization of these two elements between D. melanogaster and D. repleta (two species that belong to different subgenera and diverged some 62 million years ago) showed an extensive reorganization via paracentric inversions. Using a maximum likelihood procedure, we estimated that 130 paracentric inversions have become fixed in element E after the divergence of the two lineages. Therefore, the evolution rate for element E is approximately one inversion per million years. This value is comparable to previous estimates of the rate of evolution of chromosome X and yields an estimate of 4.5 inversions per million years for the whole Drosophila genome.     

Recombination rate predicts inversion size in Diptera.

Most species of the Drosophila genus and other Diptera are polymorphic for paracentric inversions. A common observation is that successful inversions are of intermediate size. We test here the hypothesis that the selected property is the recombination length of inversions, not their physical length. If so, physical length of successful inversions should be negatively correlated with recombination rate across species. This prediction was tested by a comprehensive statistical analysis of inversion size and recombination map length in 12 Diptera species for which appropriate data are available. We found that (1) there is a wide variation in recombination map length among species; (2) physical length of successful inversions varies greatly among species and is inversely correlated with the species recombination map length; and (3) neither the among-species variation in inversion length nor the correlation are observed in unsuccessful inversions. The clear differences between successful and unsuccessful inversions point to natural selection as the most likely explanation for our results. Presumably the selective advantage of an inversion increases with its length, but so does its detrimental effect on fertility due to double crossovers. Our analysis provides the strongest and most extensive evidence in favor of the notion that the adaptive value of inversions stems from their effect on recombination.     

Study of the karyotype of the malaria mosquito]

A study of the karyotype composition of 22 geographycally removed natural populations of the malarial mosquito Anopheles messeae Fall revealed a chromosomal polymorphism characteristic of the whole species. 13 paracentric inversions were detected, no other gene arrangements being discovered. All the inversions can be divided into two classes: 1) wide spread inversions in hetero- and homozygous forms; 2) endemic ones discovered in individual populations in the form of heterozygotes. According to the presented photomap of salivary gland chromosomes, the inversion localization are as follows: IL1 (2a--4a), IL2 (1c--4a), IL3 (2a--3b), IL4 (1c--3b), IIR1 (7c--12c), IIR2 (10b--14b), IIL1 (15b--17a), IIIR1 (24a--26c), IIIR2 (23a--24c), IIIR3 (23b--25c), IIIR4 (27c--29c), IIIR5 (27d--30c), IIIL1 (34a--39d).     

Chromosomal polymorphism in natural populations of Drosophila pavani

Summary D. pavani Brncic 1957, is a neotropical species found in Chile and in a part of Argentina along the eastern slope of the Andes. The present paper describes the mitotic and salivary gland chromosomes of this species and gives a composite map of the Standard gene arrangement.Natural populations ofD. pavani are polymorphic with respect to the gene orders in their chromosomes. The observed variations in the gene arrangements are due to complex included and overlapping paracentric inversions. In none of the populations or in the crosses studied were found the hypothetical intermediate steps needed for the establishment of the phylogeny of the gene orders present in nature.The qualitative and quantitative data on the distribution and frequency of inversions show no pronounced geographic variations. The high incidence of inversion heterozygotes and the absence of the intermediate steps between the gene arrangements found in nature, seem to indicate an adaptive nature of the polymorphism observed inD. pavani This work has been supported in part by a grant from the Rockefeller Foundation.     

Comparative analysis of karyotypes in European shrew species. I. The sibling species Sorex araneus and S. gemellus: Q-bands, G-bands, and position of NORs

The karyotypes of two closely related species of the genus Sorex (Mammalia, Insectivora) were compared with each other by G- and Q-banding techniques and by Ag-AS staining (GOODPASTURE and BLOOM, 1975). By comparing the G-banded karyotypes, it could be ascertained that the basic differences in karyotype between the two species lie in three pericentric inversions, three paracentric inversions, and one reciprocal translocation. This is in near agreement with FORD and HAMERTON (1970), who assumed that both species differ by three pericentric inversions and one tandem translocation. Furthermore, the karyotype of S. araneus (race C) presented by HALKKA et al. (1974) has been compared with the S. araneus of the present report. Considering the species with respect to karyotypic evolution, it is supposed that S. araneus and S. gemellus derive from a common ancestor.