{"entity": "journal", "iuid": "e165c5d0117a4a23a4b4caff61aabf55", "timestamp": "2026-03-17T00:47:16.523Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/Genetics.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/Genetics"}}, "title": "Genetics", "issn": "1943-2631", "issn-l": "0016-6731", "publications_count": 6, "publications": [{"entity": "publication", "iuid": "eb7bc2c857364957b17b2fc238df01ee", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/eb7bc2c857364957b17b2fc238df01ee.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/eb7bc2c857364957b17b2fc238df01ee"}}, "title": "Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus.", "authors": [{"family": "Carneiro", "given": "Miguel", "initials": "M"}, {"family": "Hu", "given": "Dou", "initials": "D"}, {"family": "Archer", "given": "John", "initials": "J"}, {"family": "Feng", "given": "Chungang", "initials": "C"}, {"family": "Afonso", "given": "Sandra", "initials": "S"}, {"family": "Chen", "given": "Congying", "initials": "C"}, {"family": "Blanco-Aguiar", "given": "Jos\u00e9 A", "initials": "JA"}, {"family": "Garreau", "given": "Herv\u00e9", "initials": "H"}, {"family": "Boucher", "given": "Samuel", "initials": "S"}, {"family": "Ferreira", "given": "Paula G", "initials": "PG"}, {"family": "Ferrand", "given": "Nuno", "initials": "N"}, {"family": "Rubin", "given": "Carl-Johan", "initials": "CJ"}, {"family": "Andersson", "given": "Leif", "initials": "L"}], "type": "journal article", "published": "2017-02-00", "journal": {"title": "Genetics", "issn": "0016-6731", "volume": "205", "issue": "2", "pages": "955-965", "issn-l": null}, "abstract": "The dwarf phenotype characterizes the smallest of rabbit breeds and is governed largely by the effects of a single dwarfing allele with an incompletely dominant effect on growth. Dwarf rabbits typically weigh under 1 kg and have altered craniofacial morphology. The dwarf allele is recessive lethal and dwarf homozygotes die within a few days of birth. The dwarf phenotype is expressed in heterozygous individuals and rabbits from dwarf breeds homozygous for the wild-type allele are normal, although smaller when compared to other breeds. Here, we show that the dwarf allele constitutes a \u223c12.1 kb deletion overlapping the promoter region and first three exons of the HMGA2 gene leading to inactivation of this gene. HMGA2 has been frequently associated with variation in body size across species. Homozygotes for null alleles are viable in mice but not in rabbits and probably not in humans. RNA-sequencing analysis of rabbit embryos showed that very few genes (4-29 genes) were differentially expressed among the three HMGA2/dwarf genotypes, suggesting that dwarfism and inviability in rabbits are caused by modest changes in gene expression. Our results show that HMGA2 is critical for normal expression of IGF2BP2, which encodes an RNA-binding protein. Finally, we report a catalog of regions of elevated genetic differentiation between dwarf and normal-size rabbits, including LCORL-NCAPG, STC2, HOXD cluster, and IGF2BP2 Levels and patterns of genetic diversity at the LCORL-NCAPG locus further suggest that small size in dwarf breeds was enhanced by crosses with wild rabbits. Overall, our results imply that small size in dwarf rabbits results from a large effect, loss-of-function (LOF) mutation in HMGA2 combined with polygenic selection.", "doi": "10.1534/genetics.116.196667", "pmid": "27986804", "labels": {"Affiliated researcher": null}, "xrefs": [{"db": "pii", "key": "genetics.116.196667"}, {"db": "pmc", "key": "PMC5289862"}], "notes": [], "created": "2018-12-05T12:13:31.765Z", "modified": "2018-12-05T12:13:31.788Z"}, {"entity": "publication", "iuid": "ce5d50f3b0374b9e93fe2120720b9747", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ce5d50f3b0374b9e93fe2120720b9747.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ce5d50f3b0374b9e93fe2120720b9747"}}, "title": "Inferring Past Effective Population Size from Distributions of Coalescent Times.", "authors": [{"family": "Gattepaille", "given": "Lucie", "initials": "L"}, {"family": "G\u00fcnther", "given": "Torsten", "initials": "T"}, {"family": "Jakobsson", "given": "Mattias", "initials": "M"}], "type": "journal article", "published": "2016-11-00", "journal": {"title": "Genetics", "issn": "0016-6731", "volume": "204", "issue": "3", "pages": "1191-1206", "issn-l": null}, "abstract": "Inferring and understanding changes in effective population size over time is a major challenge for population genetics. Here we investigate some theoretical properties of random-mating populations with varying size over time. In particular, we present an exact solution to compute the population size as a function of time, [Formula: see text], based on distributions of coalescent times of samples of any size. This result reduces the problem of population size inference to a problem of estimating coalescent time distributions. To illustrate the analytic results, we design a heuristic method using a tree-inference algorithm and investigate simulated and empirical population-genetic data. We investigate the effects of a range of conditions associated with empirical data, for instance number of loci, sample size, mutation rate, and cryptic recombination. We show that our approach performs well with genomic data (\u2265 10,000 loci) and that increasing the sample size from 2 to 10 greatly improves the inference of [Formula: see text] whereas further increase in sample size results in modest improvements, even under a scenario of exponential growth. We also investigate the impact of recombination and characterize the potential biases in inference of [Formula: see text] The approach can handle large sample sizes and the computations are fast. We apply our method to human genomes from four populations and reconstruct population size profiles that are coherent with previous finds, including the Out-of-Africa bottleneck. Additionally, we uncover a potential difference in population size between African and non-African populations as early as 400 KYA. In summary, we provide an analytic relationship between distributions of coalescent times and [Formula: see text], which can be incorporated into powerful approaches for inferring past population sizes from population-genomic data.", "doi": "10.1534/genetics.115.185058", "pmid": "27638421", "labels": {"Affiliated researcher": null}, "xrefs": [{"db": "pii", "key": "genetics.115.185058"}, {"db": "pmc", "key": "PMC5105851"}], "notes": [], "created": "2018-12-05T12:00:15.686Z", "modified": "2018-12-05T12:00:15.707Z"}, {"entity": "publication", "iuid": "24d465030d124131bdc836ab9f85b85d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/24d465030d124131bdc836ab9f85b85d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/24d465030d124131bdc836ab9f85b85d"}}, "title": "The relationship between F(ST) and the frequency of the most frequent allele.", "authors": [{"family": "Jakobsson", "given": "Mattias", "initials": "M"}, {"family": "Edge", "given": "Michael D", "initials": "MD"}, {"family": "Rosenberg", "given": "Noah A", "initials": "NA"}], "type": "journal article", "published": "2013-02-00", "journal": {"title": "Genetics", "issn": "0016-6731", "volume": "193", "issue": "2", "pages": "515-528", "issn-l": null}, "abstract": "F(ST) is frequently used as a summary of genetic differentiation among groups. It has been suggested that F(ST) depends on the allele frequencies at a locus, as it exhibits a variety of peculiar properties related to genetic diversity: higher values for biallelic single-nucleotide polymorphisms (SNPs) than for multiallelic microsatellites, low values among high-diversity populations viewed as substantially distinct, and low values for populations that differ primarily in their profiles of rare alleles. A full mathematical understanding of the dependence of F(ST) on allele frequencies, however, has been elusive. Here, we examine the relationship between F(ST) and the frequency of the most frequent allele, demonstrating that the range of values that F(ST) can take is restricted considerably by the allele-frequency distribution. For a two-population model, we derive strict bounds on F(ST) as a function of the frequency M of the allele with highest mean frequency between the pair of populations. Using these bounds, we show that for a value of M chosen uniformly between 0 and 1 at a multiallelic locus whose number of alleles is left unspecified, the mean maximum F(ST) is \u223c0.3585. Further, F(ST) is restricted to values much less than 1 when M is low or high, and the contribution to the maximum F(ST) made by the most frequent allele is on average \u223c0.4485. Using bounds on homozygosity that we have previously derived as functions of M, we describe strict bounds on F(ST) in terms of the homozygosity of the total population, finding that the mean maximum F(ST) given this homozygosity is 1 - ln 2 \u2248 0.3069. Our results provide a conceptual basis for understanding the dependence of F(ST) on allele frequencies and genetic diversity and for interpreting the roles of these quantities in computations of F(ST) from population-genetic data. Further, our analysis suggests that many unusual observations of F(ST), including the relatively low F(ST) values in high-diversity human populations from Africa and the relatively low estimates of F(ST) for microsatellites compared to SNPs, can be understood not as biological phenomena associated with different groups of populations or classes of markers but rather as consequences of the intrinsic mathematical dependence of F(ST) on the properties of allele-frequency distributions.", "doi": "10.1534/genetics.112.144758", "pmid": "23172852", "labels": {"Affiliated researcher": null}, "xrefs": [{"db": "pii", "key": "genetics.112.144758"}, {"db": "pmc", "key": "PMC3567740"}], "notes": [], "created": "2018-12-05T08:45:49.005Z", "modified": "2018-12-05T08:45:49.027Z"}, {"entity": "publication", "iuid": "1ef52daf03244f559535c91a0fce23d3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1ef52daf03244f559535c91a0fce23d3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1ef52daf03244f559535c91a0fce23d3"}}, "title": "Combining markers into haplotypes can improve population structure inference.", "authors": [{"family": "Gattepaille", "given": "Lucie M", "initials": "LM"}, {"family": "Jakobsson", "given": "Mattias", "initials": "M"}], "type": "journal article", "published": "2012-01-00", "journal": {"title": "Genetics", "issn": "0016-6731", "volume": "190", "issue": "1", "pages": "159-174", "issn-l": null}, "abstract": "High-throughput genotyping and sequencing technologies can generate dense sets of genetic markers for large numbers of individuals. For most species, these data will contain many markers in linkage disequilibrium (LD). To utilize such data for population structure inference, we investigate the use of haplotypes constructed by combining the alleles at single-nucleotide polymorphisms (SNPs). We introduce a statistic derived from information theory, the gain of informativeness for assignment (GIA), which quantifies the additional information for assigning individuals to populations using haplotype data compared to using individual loci separately. Using a two-loci-two-allele model, we demonstrate that combining markers in linkage equilibrium into haplotypes always leads to nonpositive GIA, suggesting that combining the two markers is not advantageous for ancestry inference. However, for loci in LD, GIA is often positive, suggesting that assignment can be improved by combining markers into haplotypes. Using GIA as a criterion for combining markers into haplotypes, we demonstrate for simulated data a significant improvement of assigning individuals to candidate populations. For the many cases that we investigate, incorrect assignment was reduced between 26% and 97% using haplotype data. For empirical data from French and German individuals, the incorrectly assigned individuals can, for example, be decreased by 73% using haplotypes. Our results can be useful for challenging population structure and assignment problems, in particular for studies where large-scale population-genomic data are available.", "doi": "10.1534/genetics.111.131136", "pmid": "21868606", "labels": {"Affiliated researcher": null}, "xrefs": [{"db": "pii", "key": "genetics.111.131136"}, {"db": "pmc", "key": "PMC3249356"}], "notes": [], "created": "2018-12-05T09:37:12.919Z", "modified": "2018-12-05T09:37:12.941Z"}, {"entity": "publication", "iuid": "9041958dad3d4782a0dcd80a5ec9ba34", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9041958dad3d4782a0dcd80a5ec9ba34.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9041958dad3d4782a0dcd80a5ec9ba34"}}, "title": "The Conserved Foot Domain of RNA Pol II Associates with Proteins Involved in Transcriptional Initiation and/or Early Elongation", "authors": [{"family": "Garc\u00eda-L\u00f3pez", "given": "M Carmen", "initials": "MC"}, {"family": "Pelechano", "given": "Vicent", "initials": "V"}, {"family": "Mir\u00f3n-Garc\u00eda", "given": "M Carmen", "initials": "MC"}, {"family": "Garrido-Godino", "given": "Ana I", "initials": "AI"}, {"family": "Garc\u00eda", "given": "Alicia", "initials": "A"}, {"family": "Calvo", "given": "Olga", "initials": "O"}, {"family": "Werner", "given": "Michel", "initials": "M"}, {"family": "P\u00e9rez-Ort\u00edn", "given": "Jos\u00e9 E", "initials": "JE"}, {"family": "Navarro", "given": "Francisco", "initials": "F"}], "type": "journal-article", "published": "2011-12-00", "journal": {"volume": "189", "issn": "0016-6731", "issue": "4", "pages": "1235-1248", "title": "Genetics", "issn-l": null}, "abstract": "RNA polymerase (pol) II establishes many protein-protein interactions with transcriptional regulators to coordinate different steps of transcription. Although some of these interactions have been well described, little is known about the existence of RNA pol II regions involved in contact with transcriptional regulators. We hypothesize that conserved regions on the surface of RNA pol II contact transcriptional regulators. We identified such an RNA pol II conserved region that includes the majority of the \"foot\" domain and identified interactions of this region with Mvp1, a protein required for sorting proteins to the vacuole, and Spo14, a phospholipase D. Deletion of MVP1 and SPO14 affects the transcription of their target genes and increases phosphorylation of Ser5 in the carboxy-terminal domain (CTD). Genetic, phenotypic, and functional analyses point to a role for these proteins in transcriptional initiation and/or early elongation, consistent with their genetic interactions with CEG1, a guanylyltransferase subunit of the Saccharomyces cerevisiae capping enzyme.", "doi": "10.1534/genetics.111.133215", "pmid": "21954159", "labels": {"Vicent Pelechano": null, "SciLifeLab Fellow": null}, "xrefs": [], "notes": [], "created": "2018-12-03T14:27:04.860Z", "modified": "2022-11-07T11:38:35.202Z"}, {"entity": "publication", "iuid": "e9c1c68173cc4f70b6ce7aea29a6d290", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e9c1c68173cc4f70b6ce7aea29a6d290.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e9c1c68173cc4f70b6ce7aea29a6d290"}}, "title": "Splicing variation at a FLOWERING LOCUS C homeolog is associated with flowering time variation in the tetraploid Capsella bursa-pastoris.", "authors": [{"family": "Slotte", "given": "Tanja", "initials": "T"}, {"family": "Huang", "given": "Hui-Run", "initials": "HR"}, {"family": "Holm", "given": "Karl", "initials": "K"}, {"family": "Ceplitis", "given": "Alf", "initials": "A"}, {"family": "Onge", "given": "Kate St", "initials": "KS"}, {"family": "Chen", "given": "Jun", "initials": "J"}, {"family": "Lagercrantz", "given": "Ulf", "initials": "U"}, {"family": "Lascoux", "given": "Martin", "initials": "M"}], "type": "comparative study", "published": "2009-09-00", "journal": {"title": "Genetics", "issn": "0016-6731", "volume": "183", "issue": "1", "pages": "337-345", "issn-l": null}, "abstract": "The long-term fates of duplicate genes are well studied both empirically and theoretically, but how the short-term evolution of duplicate genes contributes to phenotypic variation is less well known. Here, we have studied the genetic basis of flowering time variation in the disomic tetraploid Capsella bursa-pastoris. We sequenced four duplicate candidate genes for flowering time and 10 background loci in samples from western Eurasia and China. Using a mixed-model approach that accounts for population structure, we found that polymorphisms at one homeolog of two candidate genes, FLOWERING LOCUS C (FLC) and CRYPTOCHROME1 (CRY1), were associated with natural flowering time variation. No potentially causative polymorphisms were found in the coding region of CRY1; however, at FLC two splice site polymorphisms were associated with early flowering. Accessions harboring nonconsensus splice sites expressed an alternatively spliced transcript or did not express this FLC homeolog. Our results are consistent with the function of FLC as a major repressor of flowering in Arabidopsis thaliana and imply that nonfunctionalization of duplicate genes could provide an important source of phenotypic variation.", "doi": "10.1534/genetics.109.103705", "pmid": "19581451", "labels": {"Tanja Slotte": null, "SciLifeLab Fellow": null}, "xrefs": [{"db": "pii", "key": "genetics.109.103705"}, {"db": "pmc", "key": "PMC2746158"}, {"db": "GENBANK", "key": "GQ251527"}, {"db": "GENBANK", "key": "GQ251528"}, {"db": "GENBANK", "key": "GQ251529"}, {"db": "GENBANK", "key": "GQ251530"}, {"db": "GENBANK", "key": "GQ251531"}, {"db": "GENBANK", "key": "GQ251532"}, {"db": "GENBANK", "key": "GQ251533"}, {"db": "GENBANK", "key": "GQ251534"}, {"db": "GENBANK", "key": "GQ251535"}, {"db": "GENBANK", "key": "GQ251536"}, {"db": "GENBANK", "key": "GQ251537"}, {"db": "GENBANK", "key": "GQ251538"}, {"db": "GENBANK", "key": "GQ251539"}, {"db": "GENBANK", "key": "GQ251540"}, {"db": "GENBANK", "key": "GQ251541"}, {"db": "GENBANK", "key": "GQ251542"}, {"db": "GENBANK", "key": "GQ251543"}, {"db": "GENBANK", "key": "GQ251544"}, {"db": "GENBANK", "key": "GQ251545"}, {"db": "GENBANK", "key": "GQ251546"}, {"db": "GENBANK", "key": "GQ251547"}, {"db": "GENBANK", "key": "GQ251548"}, {"db": "GENBANK", "key": "GQ251549"}, {"db": "GENBANK", "key": "GQ251550"}, {"db": "GENBANK", "key": "GQ251551"}, {"db": "GENBANK", "key": "GQ251552"}, {"db": "GENBANK", "key": "GQ251553"}, {"db": "GENBANK", "key": "GQ251554"}, {"db": "GENBANK", "key": "GQ251555"}, {"db": "GENBANK", "key": "GQ251556"}, {"db": "GENBANK", "key": "GQ251557"}, {"db": "GENBANK", "key": "GQ251558"}, {"db": "GENBANK", "key": "GQ251559"}, {"db": "GENBANK", "key": "GQ251560"}, {"db": "GENBANK", "key": "GQ251561"}, {"db": "GENBANK", "key": "GQ251562"}, {"db": "GENBANK", "key": "GQ251563"}, {"db": "GENBANK", "key": "GQ251564"}, {"db": "GENBANK", "key": "GQ251565"}, {"db": "GENBANK", "key": "GQ251566"}, {"db": "GENBANK", "key": "GQ251567"}, {"db": "GENBANK", "key": "GQ251568"}, {"db": "GENBANK", "key": "GQ251569"}, {"db": "GENBANK", "key": "GQ251570"}, {"db": "GENBANK", "key": "GQ251571"}, {"db": "GENBANK", "key": "GQ251572"}, {"db": "GENBANK", "key": "GQ251573"}, {"db": "GENBANK", "key": "GQ251574"}, {"db": "GENBANK", "key": "GQ251575"}, {"db": "GENBANK", "key": "GQ251576"}, {"db": "GENBANK", "key": "GQ251577"}, {"db": "GENBANK", "key": "GQ251578"}, {"db": "GENBANK", "key": "GQ251579"}, {"db": "GENBANK", "key": "GQ251580"}, {"db": "GENBANK", "key": "GQ251581"}, {"db": "GENBANK", "key": "GQ251582"}, {"db": "GENBANK", "key": "GQ251583"}, {"db": "GENBANK", "key": "GQ251584"}, {"db": "GENBANK", "key": "GQ251585"}, {"db": "GENBANK", "key": "GQ251586"}, {"db": "GENBANK", "key": "GQ251587"}, {"db": "GENBANK", "key": "GQ251588"}, {"db": "GENBANK", "key": "GQ251589"}, {"db": "GENBANK", "key": "GQ251590"}, {"db": "GENBANK", "key": "GQ251591"}, {"db": "GENBANK", "key": "GQ251592"}, {"db": "GENBANK", "key": "GQ251593"}, {"db": "GENBANK", "key": "GQ251594"}, {"db": "GENBANK", "key": "GQ251595"}, {"db": "GENBANK", "key": "GQ251596"}, {"db": "GENBANK", "key": "GQ251597"}, {"db": "GENBANK", "key": "GQ251598"}, {"db": "GENBANK", "key": "GQ251599"}, {"db": "GENBANK", "key": "GQ251600"}, {"db": "GENBANK", "key": "GQ251601"}, {"db": "GENBANK", "key": "GQ251602"}, {"db": "GENBANK", "key": "GQ251603"}, {"db": "GENBANK", "key": "GQ251604"}, {"db": "GENBANK", "key": "GQ251605"}, {"db": "GENBANK", "key": "GQ251606"}, {"db": "GENBANK", "key": "GQ251607"}, {"db": "GENBANK", "key": "GQ251608"}, {"db": "GENBANK", "key": "GQ251609"}, {"db": "GENBANK", "key": "GQ251610"}, {"db": "GENBANK", "key": "GQ251611"}, {"db": "GENBANK", "key": "GQ251612"}, {"db": "GENBANK", "key": "GQ251613"}, {"db": "GENBANK", "key": "GQ251614"}, {"db": "GENBANK", "key": "GQ251615"}, {"db": "GENBANK", "key": "GQ251616"}, {"db": "GENBANK", "key": "GQ251617"}, {"db": "GENBANK", "key": "GQ251618"}, {"db": "GENBANK", "key": "GQ251619"}, {"db": "GENBANK", 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"created": "2020-10-09T13:57:37.335Z", "modified": "2022-11-07T11:38:19.900Z"}], "created": "2018-12-03T14:27:04.874Z", "modified": "2020-11-27T13:12:58.448Z"}