scholarly journals Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 157
Author(s):  
Andrey D. Manakhov ◽  
Maria Y. Mintseva ◽  
Tatiana V. Andreeva ◽  
Pavel A. Filimonov ◽  
Alexey A. Onokhov ◽  
...  
Keyword(s):  
Coat Color ◽  
Molecular Genetic ◽  
Recessive Trait ◽  
Gene Encoding ◽  
Molecular Genetic Basis ◽  
Membrane Bound ◽  
Tyrosinase Enzyme ◽  
Fur Color ◽  
The Stability ◽  
Fur Animals

Sable (Martes zibellina) is one of the most valuable species of fur animals. Wild-type sable fur color varies from sandy-yellow to black. Farm breeding and 90 years of directional selection have resulted in a generation of several sable breeds with a completely black coat color. In 2005, an unusually chocolate (pastel) puppy was born in the Puschkinsky State Fur Farm (Russia). We established that the pastel phenotype was inherited as a Mendelian autosomal recessive trait. We performed whole-genome sequencing of the sables with pastel fur color and identified a frameshift variant in the gene encoding membrane-bound tyrosinase-like enzyme (TYRP1). TYRP1 is involved in the stability of the tyrosinase enzyme and participates in the synthesis of eumelanin. These data represent the first reported variant linked to fur color in sables and reveal the molecular genetic basis for pastel color pigmentation. These data are also useful for tracking economically valuable fur traits in sable breeding programs.

scholarly journals Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 826
Author(s):  
Jocelyn Tanaka ◽  
Tosso Leeb ◽  
James Rushton ◽  
Thomas R. Famula ◽  
Maura Mack ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Coat Color ◽  
Mixed Linear Model ◽  
Major Facilitator Superfamily ◽  
Recessive Trait ◽  
Sequencing Data ◽  
Gene Encoding ◽  
Genome Wide ◽  
A Genome ◽  
Major Facilitator

Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone and is hypothesized to be a recessive trait. A genome wide association study (GWAS), utilizing the Affymetrix 670K array (MNEc670k) and a single locus mixed linear model analysis (EMMAX), identified a locus on ECA7 for further investigation (Pcorrected = 2.08 × 10−10). This locus contained a 3 Mb run of homozygosity in the 12 mushroom ponies tested. Analysis of high throughput Illumina sequencing data from one mushroom Shetland pony compared to 87 genomes from horses of various breeds, uncovered a frameshift variant, p.Asp201fs, in the MFSD12 gene encoding the major facilitator superfamily domain containing 12 protein. This variant was perfectly concordant with phenotype in 96 Shetland Ponies (P = 1.15 × 10−22), was identified in the closely related Miniature Horse for which the mushroom phenotype is suspected to occur (fmu = 0.02), and was absent in 252 individuals from seven additional breeds not reported to have the mushroom phenotype. MFSD12 is highly expressed in melanocytes and variants in this gene in humans, mice, and dogs impact pigmentation. Given the role of MFSD12 in melanogenesis, we propose that p.Asp201fs is causal for the dilution observed in mushroom ponies.

oPnosDsA ib F le m lo o c le a c ti uolnesdoefdCurcoemdefrrosm ys t M em AI EaAntt ig e e st nss Understanding of the biochemical structures and molecular basis of Rh antigens is emerging rapidly. Absence of Rh antigens, as occurs in the RhnuN phenotype, compromises the integrity of red cells and cells from people with an RhnuN phenotype have been extensively studied. These studies contributed to the recognition of Rh polypeptides and some related glycoproteins [see 20,21,22]. Partial amino acid sequencing of the proteins in Bristol, Paris and Baltimore [23,24,25] led to recognition of involvement of two genes and isolation of cDNA by the Paris and Bristol workers [26,27] and cloning of the D gene [28]. One gene is responsible for the D polypeptide and another for the C and E series of antigens. However, although encoded by the same gene there is evidence that the C and E series of antigens are carried by different proteins. The molecular genetic basis of Rh antigens is discussed in another presentation. Immune precipitation using anti-D, -c, -E or R6A antibodies demonstrated the proteins which carried the Rh antigens. Two bands are co-precipitated by anti-D: one with an apparent Mr 30,000 called D30 polypeptide by the Bristol group and the other a diffuse band of 50-100 kD called the D50 polypeptide. Similar bands were observed when immune precipitation were done using anti-c, -E or R6A [see 20-22]. The D30 polypeptide was an unusual membrane protein because it was not glycosylated, the gene producing this protein and the other Rh protein were subsequently cloned. Assignment of the genes to chromosome 1p34-p36 confirmed that they are responsible for the Rh polymorphism [see 22]. The role of the Rh glycoproteins, the diffuse band of 50-1 OOkD, is not yet understood: the gene encoding the Rh glycoprotein when cloned was assigned to chromosome 6p21-qter [29].

1995 ◽  
pp. 192-192
Keyword(s):  
Molecular Basis ◽  
Molecular Genetic ◽  
The Other ◽  
Diffuse Band ◽  
Gene Encoding ◽  
Molecular Genetic Basis ◽  
Immune Precipitation ◽  
Rh Glycoproteins ◽  
Chromosome 1P34

scholarly journals Molecular genetic basis of flower colour variegation in Linaria

2007 ◽  
Vol 89 (3) ◽  
pp. 129-134 ◽  
Author(s):  
LISETE GALEGO ◽  
JORGE ALMEIDA
Keyword(s):  
Molecular Basis ◽  
Genetic Basis ◽  
Anthocyanin Biosynthesis ◽  
Molecular Genetic ◽  
Flower Colour ◽  
Close Relative ◽  
Model Species ◽  
Gene Encoding ◽  
Genetic Studies ◽  
Molecular Genetic Basis

SummaryTo identify transposons that may be of use for mutagenesis we investigated the genetic molecular basis of a case of flower colour variegation in Linaria, a close relative of the model species Antirrhinum majus. We show that this variegation is attributable to an unstable mutant allele of the gene encoding dihydroflavonol-4-reductase, one of the enzymes required for anthocyanin biosynthesis. This allele carries an insertion of a transposon belonging to the CACTA family (Tl1, Transposon Linaria 1) which blocks its expression thus conferring an ivory flower colour phenotype. Tl1 is occasionally excised in dividing epidermal cells to produce clonal patches of red tissue on the ivory background, and in cells giving rise to gametes to generate reversion alleles conferring a fully coloured phenotype. This finding may open the way for targeted transposon-mutagenesis in Linaria, and hence for using this genus in comparative genetic studies.

scholarly journals Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2

2021 ◽  
Vol 11 (6) ◽  
pp. 526
Author(s):  
Yejin Lee ◽  
Youn Jung Kim ◽  
Hong-Keun Hyun ◽  
Jae-Cheoun Lee ◽  
Zang Hee Lee ◽  
...  
Keyword(s):  
Collagen Type ◽  
Molecular Genetic ◽  
Collagen Type I ◽  
Type I ◽  
Dentinogenesis Imperfecta ◽  
Gene Encoding ◽  
Korean Families ◽  
Whole Exome ◽  
Genes Encoding ◽  
Candidate Gene Sequencing

Hereditary dentin defects can be categorized as a syndromic form predominantly related to osteogenesis imperfecta (OI) or isolated forms without other non-oral phenotypes. Mutations in the gene encoding dentin sialophosphoprotein (DSPP) have been identified to cause dentinogenesis imperfecta (DGI) Types II and III and dentin dysplasia (DD) Type II. While DGI Type I is an OI-related syndromic phenotype caused mostly by monoallelic mutations in the genes encoding collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2). In this study, we recruited families with non-syndromic dentin defects and performed candidate gene sequencing for DSPP exons and exon/intron boundaries. Three unrelated Korean families were further analyzed by whole-exome sequencing due to the lack of the DSPP mutation, and heterozygous COL1A2 mutations were identified: c.3233G>A, p.(Gly1078Asp) in Family 1 and c.1171G>A, p.(Gly391Ser) in Family 2 and 3. Haplotype analysis revealed different disease alleles in Families 2 and 3, suggesting a mutational hotspot. We suggest expanding the molecular genetic etiology to include COL1A2 for isolated dentin defects in addition to DSPP.

Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Tail Region Mutations

Genetics ◽  
1998 ◽  
Vol 148 (4) ◽  
pp. 1963-1972 ◽  
Author(s):  
Jian-Dong Huang ◽  
Valerie Mermall ◽  
Marjorie C Strobel ◽  
Liane B Russell ◽  
Mark S Mooseker ◽  
...  
Keyword(s):  
Coat Color ◽  
Molecular Genetic ◽  
Genetic Dissection ◽  
Rt Pcr ◽  
Tail Region ◽  
Unconventional Myosin ◽  
Myosin Va ◽  
Cell Type Specific ◽  
Extensive Collection ◽  
Tail Function

AbstractWe used an RT-PCR-based sequencing approach to identify the mutations responsible for 17 viable dilute alleles, a mouse-coat-color locus encoding unconventional myosin-VA. Ten of the mutations mapped to the MyoVA tail and are reported here. These mutations represent the first extensive collection of tail mutations reported for any unconventional mammalian myosin. They identify sequences important for tail function and identify domains potentially involved in cargo binding and/or proper folding of the MyoVA tail. Our results also provide support for the notion that different myosin tail isoforms produced by alternative splicing encode important cell-type-specific functions.

Yeast ribosomal protein L1 is required for the stability of newly synthesized 5S rRNA and the assembly of 60S ribosomal subunits

1993 ◽  
Vol 13 (5) ◽  
pp. 2835-2845
Author(s):  
M Deshmukh ◽  
Y F Tsay ◽  
A G Paulovich ◽  
J L Woolford
Keyword(s):  
Ribosomal Protein ◽  
Ribosomal Subunit ◽  
Single Copy ◽  
5S Rrna ◽  
Gene Encoding ◽  
Ribosomal Subunits ◽  
Ribosomal Protein L1 ◽  
The Stability ◽  
And Function

Ribosomal protein L1 from Saccharomyces cerevisiae binds 5S rRNA and can be released from intact 60S ribosomal subunits as an L1-5S ribonucleoprotein (RNP) particle. To understand the nature of the interaction between L1 and 5S rRNA and to assess the role of L1 in ribosome assembly and function, we cloned the RPL1 gene encoding L1. We have shown that RPL1 is an essential single-copy gene. A conditional null mutant in which the only copy of RPL1 is under control of the repressible GAL1 promoter was constructed. Depletion of L1 causes instability of newly synthesized 5S rRNA in vivo. Cells depleted of L1 no longer assemble 60S ribosomal subunits, indicating that L1 is required for assembly of stable 60S ribosomal subunits but not 40S ribosomal subunits. An L1-5S RNP particle not associated with ribosomal particles was detected by coimmunoprecipitation of L1 and 5S rRNA. This pool of L1-5S RNP remained stable even upon cessation of 60S ribosomal subunit assembly by depletion of another ribosomal protein, L16. Preliminary results suggest that transcription of RPL1 is not autogenously regulated by L1.

scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

Sign in / Sign up

Export Citation Format

Share Document